Disease #00180 (RRS (Robinow syndrome, autosomal recessive (RRS)))

Official abbreviation RRS
Name Robinow syndrome, autosomal recessive (RRS)
OMIM ID -
Inheritance Autosomal dominant
Individuals reported having this disease 99
Phenotype entries for this disease 98
Associated with 2 genes NXN, ROR2
Associated tissues -
Disease features -
Remarks -
Date created 2013-08-28 18:26:52 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

99 entries on 1 page. Showing entries 1 - 99.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00311810 - PubMed: van Bokhoven 2000 1 family, 1 patient - - Turkey - - - - - RRS - ROR2 ROR2 1 1 Jacopo Celli
00311811 - PubMed: van Bokhoven 2000 3 patients from 3 families - - Turkey - - - - - RRS - ROR2 ROR2 1 3 Jacopo Celli
00311812 - PubMed: van Bokhoven 2000 1 family, 1 patient - - Turkey - - - - - RRS - ROR2 ROR2 1 1 Jacopo Celli
00311813 - PubMed: van Bokhoven 2000 1 family, 1 patient - - Turkey - - - - - RRS - ROR2 ROR2 1 1 Jacopo Celli
00311814 - PubMed: Tufan 2005 1 family, 1 patient - - Turkey - - - - - RRS - ROR2 ROR2 1 1 Jacopo Celli
00311815 - PubMed: Tufan 2005 1 family, 1 patient - - Germany - - - - - RRS - ROR2 ROR2 2 1 Jacopo Celli
00311816 - PubMed: Afzal 2000 1 family, 3 patients - - Brazil - - - - - RRS - ROR2 ROR2 1 3 Jacopo Celli
00311817 - PubMed: Afzal 2000 1 family, 1 patient - - Pakistan - - - - - RRS - ROR2 ROR2 2 1 Jacopo Celli
00311818 - PubMed: Afzal 2000 14 patients from 7 families - - Oman - - - - - RRS - ROR2 ROR2 1 14 Jacopo Celli
00311819 - PubMed: Afzal 2000 1 family, 1 patient - - Turkey - - - - - RRS - ROR2 ROR2 1 1 Jacopo Celli
00311834 - PubMed: van Bokhoven 2000 1 family, 1 patient - - Pakistan - - - - - RRS - ROR2 ROR2 1 1 Jacopo Celli
00311838 - PubMed: Brunetti-Pierri 2008 1 family, 4 patients - - - - - - - - RRS Robinow syndrome, syringomyelia ROR2 ROR2 1 4 Jacopo Celli
00311839 patient PubMed: Ali 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - RRS - ROR2 ROR2 1 1 Jacopo Celli
00311840 patient PubMed: Ali 2007 2-generation family, 1 affected, unaffected heterozygous carrier mother F - United Kingdom (Great Britain) - - - - - RRS - ROR2 ROR2 2 1 Jacopo Celli
00311842 - PubMed: Schwarzer 2009 1 family, 1 patient - - Oman - - - - - RRS severe brachydactyly (BDB1); patient BDB_005 has deletion of the same region ROR2 ROR2 1 1 Jacopo Celli
00311850 BAB8841 PubMed: White 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - RRS macrocephaly, no frontal bossing, high forehead, no midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, no wide nasal bridge, no short nose, long philtrum, triangular mouth, gingival hyperplasia, absent uvula, no cleft soft palate, dental anomalies, micrognathia; mesomelia; brachydactyly; clinodactyly; no camptodactyly; broad thumb; no fetal finger/toe pads; broad 1st toe; renal anomalies; cardiac anomalies NXN NXN 1 1 Johan den Dunnen
00311851 BAB9847 PubMed: White 2018 2-generation family, 2 affected sisters F no - - - - - - RRS relative macrocephaly, frontal bossing, high forehead, midface hypoplasia, hypertelorism, no long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, triangular mouth, gingival hyperplasia, no absent uvula, no cleft soft palate, no dental anomalies, micrognathia; mesomelia, improved with age; brachydactyly; clinodactyly; camptodactyly; broad thumb; fetal finger/toe pads; broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies NXN NXN 2 2 Johan den Dunnen
00311852 BAB9844 PubMed: White 2018 - F no - - - - - - RRS relative macrocephaly, frontal bossing, high forehead, midface hypoplasia, hypertelorism, no long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, triangular mouth, gingival hyperplasia, absent uvula, cleft soft palate, micrognathia; mesomelia; brachydactyly; clinodactyly; camptodactyly; broad thumb; fetal finger/toe pads; broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies NXN NXN 2 1 Johan den Dunnen
00311853 BAB8740 PubMed: White 2018 - F no - - - - - - RRS no macrocephaly, no frontal bossing, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, no triangular mouth, no gingival hyperplasia, no absent uvula, no cleft soft palate, dental anomalies, micrognathia; no mesomelia; no brachydactyly; clinodactyly; no camptodactyly; no broad thumb; fetal finger/toe pads; no broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies RAC3 RAC3 1 1 Johan den Dunnen
00311854 BAB8295 PubMed: White 2018 - M no - - - - - - RRS no macrocephaly, frontal bossing, high forehead, midface hypoplasia, hypertelorism, no long eyelashes, no prominent eyes, anteverted nares, wide nasal bridge, no short nose, no long philtrum, triangular mouth, gingival hyperplasia, no absent uvula, cleft soft palate, delayed dental eruption, no micrognathia; mesomelia; brachydactyly; clinodactyly; camptodactyly; broad thumb; no fetal finger/toe pads; broad 1st toe; no genital hypoplasia; no renal anomalies; patent ductus arteriosus GPC4 GPC4 1 1 Johan den Dunnen
00311855 5449 PubMed: White 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Kosovo - - - - - RRS height (45th); no macrocephaly, broad forehead, high forehead, midface hypoplasia, hypertelorism, mild long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, thin vermillion border, gingival hyperplasia, no bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly 5th fingers; short low implanted thumbs; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies FZD2 FZD2 1 1 Johan den Dunnen
00311856 BAB8705 PubMed: White 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - RRS height (-2.9 SD); relative, broad forehead, high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; micromelia; brachydactyly; clinodactyly 5th fingers; camptodactyly 4th fingers; broad thumb; broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies FZD2 FZD2 1 1 Johan den Dunnen
00311857 BAB7987 PubMed: White 2018 2-generation family, affected mother/daughter; daughter F - - - - - - - RRS height (-2.25 SD); no macrocephaly, broad forehead, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, no wide nasal bridge, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies FZD2 FZD2 1 2 Johan den Dunnen
00311858 BAB7988 PubMed: White 2018 affected mother of BAB7987 F - - - - - - - RRS height (-1.7 SD); macrocephaly, broad forehead, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; broad 1st toe; genital hypoplasia; renal anomalies; no cardiac anomalies FZD2 FZD2 1 1 Johan den Dunnen
00311859 BAB8596 PubMed: White 2018 2-generation family, 4 affected (2F, 2M) M - - - - - - - RRS height (-3.5 SD); no macrocephaly, broad forehead, high forehead, no midface hypoplasia, no hypertelorism, long eyelashes, no prominent eyes, anteverted nares, no wide nasal bridge, no thin vermillion border, no bilobed tongue, no dental anomalies, low set ears; mesomelia, improved with age; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies FZD2 FZD2 2 4 Johan den Dunnen
00311860 BAB8594 PubMed: White 2018 affected mother of BAB8596 F - - - - - - - RRS height (-2.1 SD); no macrocephaly, broad forehead, high forehead, no midface hypoplasia, no hypertelorism, no long eyelashes, no prominent eyes, anteverted nares, no wide nasal bridge, no thin vermillion border, no bilobed tongue, no dental anomalies, low set ears; mesomelia; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no renal anomalies; no cardiac anomalies FZD2 FZD2 1 1 Johan den Dunnen
00311863 BAB9126 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... DVL1 DVL1 1 1 Johan den Dunnen
00311864 BAB9128 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... DVL1 DVL1 1 1 Johan den Dunnen
00311865 BAB9300 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... DVL1 DVL1 1 1 Johan den Dunnen
00311866 BAB9129 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... DVL1 DVL1 1 1 Johan den Dunnen
00311867 16420 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... DVL1 DVL1 1 1 Johan den Dunnen
00311868 BAB9236 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... DVL1 DVL1 1 1 Johan den Dunnen
00311869 BAB9135 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... DVL3 DVL2 1 1 Johan den Dunnen
00311870 BAB9138/BH9278_1 PubMed: White 2018 patient M - - - - - - - RRS short stature (-4.25 SD), telecanthus, hypertelorism, frontal bossing, prominent eyes, anteverted nares, wide depressed nasal bridge, midface hypoplasia, smooth philtrum, wide mouth, bilobed tongue, gingival hyperplasia, microretrognatia, low-set ears; mesomelic limb shortening and fingers, toes very broad and short, nails dysplastic; surgery to remove Y-shaped duplication bilateral thumbs and great toes; buried penis, cryptorchidism, sacral dimple; radiography hemivertebrae (T6, T7, T13); early motor milestones delayed, present cognitive development normal WNT5A WNT5A 1 1 Johan den Dunnen
00311871 BAB9131/BH9276_1 PubMed: White 2018 patient F - - - - - - - RRS see paper; ..., infancy slow linear growth, acromesomelia, hypertelorism, prominent forehead WNT5A WNT5A 1 1 Johan den Dunnen
00311872 BAB8759/BH9282_1 PubMed: White 2018 patient F yes - - - - - - FTHS, RRS , 12d-prominent forehead, flat occiput, micrognathia, prominent eyes, hypertelorism, downslanting palpebral fissures, flat nasal bridge, nuchal edema, congenital pes equinovarus, congenital atrioventricular septal defect, recurrent respiratory infections; deceased INPPL1, SH3PXD2B INPPL1, SH3PXD2B 2 1 Johan den Dunnen
00311873 BAB8747/BH8811_1 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... FGD1 FGD1 1 1 Johan den Dunnen
00311874 BAB8751/BH9281_1 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... FGD1 FGD1 1 1 Johan den Dunnen
00311875 BAB8743/BH8812_1 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... PTPN11 PTPN11 1 1 Johan den Dunnen
00311885 BAB4073 PubMed: White 2015 - F - - - - - - - RRS height 10%; OFC SD+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; cleft soft palate; bilobed tongue; dental anomalies; short neck; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; camptodactyly; broad thumb; nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; sacral dimple; no renal anomalies; no inguinal hernia; heart defects; umbilical hernia; no seizures; no hearing loss; no absent anterior nasal spine; no omphalocele; no hepatomegaly DVL1 DVL1 1 1 Johan den Dunnen
00311886 BAB4878 PubMed: White 2015 - F - - - - - - - RRS height 17%; OFC SD+2.5; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; upslanting palpebral fissures; long eyelashes; no prominent eyes; no blue sclerae; epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no renal anomalies; no inguinal hernia; heart defects; umbilical hernia; no seizures; no hearing loss; obstructive sleep apnea; no absent anterior nasal spine; increased bone density (skull); no omphalocele; no hepatomegaly DVL1 DVL1 1 1 Johan den Dunnen
00311887 BAB5264 PubMed: White 2015 - M - - - - - - - RRS height <3%; OFC SD>+2; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; no pectus anomaly; cryptorchidism; micropenis; no renal anomalies; no inguinal hernia; no heart defects; umbilical hernia; no seizures; hearing loss; no absent anterior nasal spine; no omphalocele; no hepatomegaly DVL1 DVL1 1 1 Johan den Dunnen
00311888 16462 PubMed: White 2015 - F - - - - - - - RRS height 70%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; epicanthal folds; anteverted nares; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no bilobed tongue; dental anomalies; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; broad thumb; nail dysplasia; broad first toe; scoliosis and/or kyphosis; agenesis of the labia minora; small clitoris; hearing loss; obstructive sleep apnea; absent anterior nasal spine; increased bone density (skull) DVL1 DVL1 1 1 Johan den Dunnen
00311889 16516 PubMed: White 2015 family, monozygotic twins M - - - - - - - RRS height 90%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; no bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; no clinodactyly; no camptodactyly; broad thumb; no nail dysplasia; bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; no hypospadias; micropenis; renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; no increased bone density (skull); omphalocele; no hepatomegaly DVL1 DVL1 1 2 Johan den Dunnen
00311890 16517 PubMed: White 2015 2nd twin M - - - - - - - RRS height 75%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; no bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; no clinodactyly; no camptodactyly; broad thumb; no nail dysplasia; bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; no hypospadias; micropenis; no renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; no increased bone density (skull); no omphalocele; no hepatomegaly DVL1 DVL1 1 1 Johan den Dunnen
00311891 17604 PubMed: White 2015 - M - Turkey - - - - - RRS height 80%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; no prominent eyes; no blue sclerae; epicanthal folds; no anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; no brachydactyly; clinodactyly; camptodactyly; no broad thumb; no nail dysplasia; hypoplastic phalanges; fetal finger and/or toe pads; broad first toe; scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; hypospadias; micropenis; renal anomalies; no inguinal hernia; no heart defects; umbilical hernia; seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; increased bone density (skull); no omphalocele; no hepatomegaly DVL1 DVL1 1 1 Johan den Dunnen
00311892 30526 PubMed: White 2015 - F - Portugal Portugal;Northern Europe - - - - RRS height <3%; OFC SD>+6; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; long eyelashes; prominent eyes; no blue sclerae; wide, low nasal bridge; short nose; no long philtrum; no gingival hyperplasia; no cleft soft palate; no bilobed tongue; dental anomalies; short neck; no micrognathia; no abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; scoliosis and/or kyphosis; no pectus anomaly; no sacral dimple; no renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; hearing loss; no obstructive sleep apnea; absent anterior nasal spine; no omphalocele; hepatomegaly DVL1 DVL1 1 1 Johan den Dunnen
00311894 Pat1 PubMed: Bunn 2015 - - - New Zealand - - - - - RRS hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; no cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe DVL1 DVL1, TNRC6A 2 1 Johan den Dunnen
00311895 Pat2 PubMed: Bunn 2015 - - - New Zealand - - - - - RRS hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe DVL1 DVL1 1 1 Johan den Dunnen
00311896 Pat3 PubMed: Bunn 2015 - - - Netherlands - - - - - RRS hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; cleft palate; no camptodactyly, no brachydactyly; no gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull DVL1 DVL1 1 1 Johan den Dunnen
00311897 BAB8062 PubMed: White 2016 2-generation family, 1 affected, unaffected non-carrier parents/relatives M - Turkey - - - - - RRS height <3%; macrocephaly, frontal bossing, hypertelorism, upslanting palpebral fissures, prominent eyes, anteverted nares, depressed nasal bridge, short nose, gingival hyperplasia, cleft soft palate, dental anomalies, micrognathia, mesomelia, brachydactyly, clinodactyly, no bifid phalanges, scoliosis or kyphosis, pectus anomaly, increased bone density (skull), no hearing loss; sacral dimple, dimple between scrotum and anus; absent anterior nasal spine DVL1 DVL1 1 1 Johan den Dunnen
00311898 15902 PubMed: White 2016 family, affected mother/daughter; daughter F - - - - - - - RRS height <3rd percentile; OFC >98th; frontal bossing; no high forehead; midface hypoplasia; no hypertelorism; telecanthus; upslanting palpebral fissures; no long eyelashes; no prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; no triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft lip and/or palate; bilobed tongue; webbed neck; no micrognathia; no abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; no hypoplastic phalanges; broad first toe; no scoliosis or kyphosis; no pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no urinary reflux; no inguinal hernia; no heart defects; umbilical hernia; no seizures; no hearing loss; no omphalocele; no hepatomegaly DVL3 DVL3 1 2 Johan den Dunnen
00311899 BAB7990 PubMed: White 2016 family, affected father/daughter; daughter F - - - - - - - RRS height <3rd percentile; OFC 50th-75th; no frontal bossing; no high forehead; midface hypoplasia; hypertelorism; no telecanthus; upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; no triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; cleft palate; bilobed tongue, short tongue; no short neck; micrognathia; abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; syndactyly; camptodactyly; broad thumb; no nail dysplasia; bifid first and second phalanges; hypoplastic phalanges; broad first toe; scoliosis or kyphosis; pectus anomaly; sacral dimple; no agenesis of the labia minora; small clitoris; urinary reflux; no inguinal hernia; ventricular septal defect, pulmonary atresia, hypoplastic right heart; no umbilical hernia; no seizures; no hearing loss; omphalocele; no hepatomegaly DVL3 DVL3 1 2 Johan den Dunnen
00311900 BAB7985 PubMed: White 2016 - - - - - - - - - RRS see paper; ... DVL3 DVL3 1 1 Johan den Dunnen
00311901 BAB7982 PubMed: White 2016 - M - - - - - - - RRS height <3rd percentile; OFC 50th; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no telecanthus; upslanting palpebral fissures; long eyelashes; prominent eyes; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; no triangular mouth; no thin upper lip; no absent uvula; cleft lip, cleft palate; no short neck; micrognathia; low set ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; hypoplastic phalanges (fifth); no broad first toe; no scoliosis or kyphosis; no sacral dimple; cryptorchidism; no hypospadias; buried micropenis; no urinary reflux; no inguinal hernia; patent ductus arteriosu, patent foramen ovale, tricuspid regurgitation; no umbilical hernia; no seizures; no omphalocele; no hepatomegaly DVL3 DVL3 1 1 Johan den Dunnen
00311902 BAB4569 PubMed: White 2016 - F - - - - - - - RRS height <3rd percentile; OFC >98th; no frontal bossing; no high forehead; midface hypoplasia; no hypertelorism; telecanthus; no upslanting palpebral fissures; no long eyelashes; prominent eyes; blue sclerae; epicanthal folds; anteverted nares; wide nasal bridge; short nose; long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; cleft palate; bilobed tongue; no short neck; micrognathia; no abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; no hypoplastic phalanges; no broad first toe; scoliosis or kyphosis; pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no urinary reflux; no inguinal hernia; ventricular septal defect; no umbilical hernia; no seizures; hearing loss; no omphalocele; no hepatomegaly DVL3 DVL3 1 1 Johan den Dunnen
00394788 BAB9136;PatA6 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; low-set ears; no short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; camptodactyly; single transverse palmar crease; no broad hallux; micropenis; hypospadias; no cryptorchidism; sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; hip dislocation ROR2 ROR2 2 1 Johan den Dunnen
00394789 BAB14232;PatA21 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; no anteverted nares; no long philtrum; no short philtrum; triangular mouth; no downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; no retrognathia; no oral cleft; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; no clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; single transverse palmar crease; broad hallux; micropenis; no hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 2 1 Johan den Dunnen
00394790 BAB10973 PubMed: Zhang 2021 adopted M - United States - - - - - RRS core nervous system anomalies, seizure, facial dysmorphism - NXN 2 1 Johan den Dunnen
00406533 FamA1PatII3 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; no long eyelashes; no midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; no triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; no micrognathia; no retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; no clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; micropenis; no hypospadias; cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; no hip dislocation ROR2 ROR2 1 3 Johan den Dunnen
00406534 FamA2PatII4 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; no epicanthus; no upslanted palpebral; downslanted palpebral; ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; no micrognathia; no retrognathia; oral cleft; no abnormality of the dentition; no tooth agenesis; no microtia; no low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; micropenis; no hypospadias; cryptorchidism; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; limited pronation/supination of forearm; hemivertebrae ROR2 ROR2 1 2 Johan den Dunnen
00406535 FamA3PatIV2 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; epicanthus; no strabismus; no upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; anteverted nares; no long philtrum; no short philtrum; no triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; no tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; no clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; hypoplastic labia minora; no hypoplastic labia majora; no abnormal heart morphology; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; limited pronation/supination of forearm; hemivertebrae ROR2 ROR2 1 5 Johan den Dunnen
00406536 PatA5 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey;United States - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; no retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; microtia; low-set ears; no short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; hypoplastic labia minora; hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; hip dislocation ROR2 ROR2 2 1 Johan den Dunnen
00406538 PatA7 PubMed: Lima 2022, Journal: Lima 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; no epicanthus; strabismus; no upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; no micrognathia; retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; low-set ears; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; micropenis; no hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; no hemivertebrae; limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 1 1 Johan den Dunnen
00406539 PatA8 PubMed: Lima 2022, Journal: Lima 2022 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; tooth agenesis; melanocytic nevus; no microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; single transverse palmar crease; hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 1 1 Johan den Dunnen
00406540 PatA9 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; no low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; abnormal heart morphology; abnormality of the kidney; no hearing impairment; inguinal hernia; scoliosis; rib fusion; mesomelia; no hemivertebrae; no limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 1 1 Johan den Dunnen
00406541 PatA10 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; micrognathia; retrognathia; no oral cleft; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; no hypoplastic labia minora; no hypoplastic labia majora; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; hemivertebrae ROR2 ROR2 1 1 Johan den Dunnen
00406542 PatA11 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; camptodactyly; single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 2 1 Johan den Dunnen
00406543 PatA12 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Romania - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; low-set ears; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; hearing impairment; no inguinal hernia; scoliosis; no rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 1 1 Johan den Dunnen
00406544 PatA13 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; no tooth agenesis; melanocytic nevus; no microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; camptodactyly; broad hallux; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 1 1 Johan den Dunnen
00406545 PatA14 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Chile - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; depressed nasal bridge; no wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; oral cleft; melanocytic nevus; no microtia; low-set ears; short neck; no broad thumb; short palm; brachydactyly; no clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; micropenis; hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 1 1 Johan den Dunnen
00406546 PatA15 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; no long palpebral fissure; epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; no triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; no bifid tongue; no micrognathia; no retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; no tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 2 1 Johan den Dunnen
00406547 PatA16 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; tooth agenesis; no melanocytic nevus; no microtia; no low-set ears; no short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; abnormal heart morphology; no abnormality of the kidney; hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; hip dislocation ROR2 ROR2 2 1 Johan den Dunnen
00406548 PatA17 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes India - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; no short philtrum; no triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no bifid tongue; no micrognathia; no retrognathia; no oral cleft; no melanocytic nevus; no microtia; no low-set ears; no short neck; no pectus excavatum; no broad thumb; no short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 1 2 Johan den Dunnen
00406549 PatA18 PubMed: Lima 2022, Journal: Lima 2022 sister F yes India - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; no short philtrum; no triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no bifid tongue; no micrognathia; no retrognathia; no oral cleft; no tooth agenesis; no melanocytic nevus; no microtia; no low-set ears; no short neck; no pectus excavatum; no broad thumb; no short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 1 1 Johan den Dunnen
00406550 PatA19 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; no abnormality of the dentition; no tooth agenesis; no melanocytic nevus; no microtia; no low-set ears; short neck; no pectus excavatum; broad thumb; no short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; hypoplastic labia minora; hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 1 1 Johan den Dunnen
00406551 PatA20 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; no bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; no abnormality of the dentition; no tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; camptodactyly; no single transverse palmar crease; broad hallux; micropenis; no hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; no rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 2 1 Johan den Dunnen
00406553 PatA22 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; melanocytic nevus; no microtia; no low-set ears; short neck; no pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; abnormal heart morphology; abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; no rib fusion; mesomelia; no hemivertebrae; no limited pronation/supination of forearm; no hip dislocation ROR2 ROR2 2 1 Johan den Dunnen
00406554 Fam1Pat1 PubMed: Aglan 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-U - - - - RRS weight -1.8 SD, length -2.1 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; no abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal ROR2 ROR2 1 1 Johan den Dunnen
00406555 Fam2Pat2 PubMed: Aglan 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Egypt Egypt-L - - - - RRS weight -0.5 SD, length -4.0 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; no upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal ROR2 ROR2 1 1 Johan den Dunnen
00406556 Fam3Pat3 PubMed: Aglan 2015 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-U - - - - RRS weight -1.6 SD, length -2.1 SD, OFC -1.4 SD; delayed motor and mental milestones ; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; no bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; no abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG ventricular septal defect ROR2 ROR2 1 2 Johan den Dunnen
00406557 Fam3Pat4 PubMed: Aglan 2015 sister F yes Egypt Egypt-U - - - - RRS weight -1.8 SD, length -3.0 SD, OFC -2.7 SD; Delayed; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; natal teeth; midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal ROR2 ROR2 1 1 Johan den Dunnen
00406558 Fam4Pat5 PubMed: Aglan 2015 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-U - - - - RRS weight -1.2 SD, length -4.5 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; no bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; hemivertebrae; no spina bifida; no scoliosis; rib crowding and fusion; ECG normal ROR2 ROR2 1 1 Johan den Dunnen
00406559 Fam5Pat6 PubMed: Aglan 2015 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-L - - - - RRS weight -3.0 SD, length -3.6 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; hemivertebrae; no spina bifida; scoliosis; no rib crowding and fusion; ECG normal ROR2 ROR2 1 2 Johan den Dunnen
00406560 Fam5Pat7 PubMed: Aglan 2015 brother M yes Egypt Egypt-L - - - - RRS weight -2.8 SD, length -4.0 SD, OFC -0.8 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; no bifid tip of tongue; no crowded teeth; gingival overgrowth; no micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; no spina bifida; no scoliosis; no rib crowding and fusion; ECG normal ROR2 ROR2 1 1 Johan den Dunnen
00406561 Fam6Pat8 PubMed: Aglan 2015 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F - Egypt Egypt-L - - - - RRS weight -2.7 SD, length -5.4 SD, OFC -2.4 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; no micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; scoliosis; rib crowding and fusion; ECG atrial septal defect, pulmonary stenosis ROR2 ROR2 1 3 Johan den Dunnen
00406562 Fam6Pat9 PubMed: Aglan 2015 sister F - Egypt Egypt-L - - - - RRS weight -3.0 SD, length -5.0 SD, OFC -1.9 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG atrial septal defect, pulmonary stenosis ROR2 ROR2 1 1 Johan den Dunnen
00406563 Fam6Pat10 PubMed: Aglan 2015 brother M - Egypt Egypt-L - - - - RRS weight -1.9 SD, length -4.7 SD, OFC -1.0 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG atrial septal defect, pulmonary stenosis ROR2 ROR2 1 1 Johan den Dunnen
00406564 Fam7Pat11 PubMed: Aglan 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-L - - - - RRS weight -1.2 SD, length -1.0 SD, OFC 2.8 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; no micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; no mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; no spina bifida; no scoliosis; no rib crowding and fusion; ECG normal ROR2 ROR2 1 1 Johan den Dunnen
00406565 Pat1 PubMed: Kirat 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - RRS see paper; ..., acromesomelic short stature, scoliosis, height 132 cm (<3rd centile), weight 32 kg (<3rd centile), OFC 52 cm (<3rd centile), relative macrocephaly, hypertelorism, depressed nasal bridge, bulbous nasal tip, large mouth, short uvula; brachydactyly, aplasia middle phalanx, shortening distal phalanx fifth fingers bilaterally; toe nail dystrophy, fifth fingernail aplasia; forearm supination, pronation restricted.; phalangeal anomalies, acromesomelia, hand length 11.5 cm (<3rd centile)], scoliosis with thoracolumbar vertebral anomalies; bilateral distal ulnar hypoplasia, radioulnar dislocation; normal renal ultrasound; ECG normal ROR2 ROR2 1 1 Johan den Dunnen
00406566 FamPat2 PubMed: Kirat 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Turkey - - - - - RRS height 77.5 cm (<3rd centile), weight 9600 g (<3rd centile), OFC 44 cm (<3rd centile); hypertelorism, depressed nasal root, epicanthal folds, short nose, anteverted nares, long philtrum, downturned corners mouth, enamel dysplasia, short forearms, hypoplastic toe nails; short radius, short ulna, rib fusions, thoracic vertebral anomalies; normal renal ultrasound, ECG normal ROR2 ROR2 1 2 Johan den Dunnen
00406567 FamPat3 PubMed: Kirat 2020 brother M yes Turkey - - - - - RRS weight 2400 g (<3rd centile), height 43 cm (<3rd centile), OFC 34 cm (25th centile); flat face, hypertelorism, depressed nasal root, short nose, anteverted nares, low-set/posteriorly angulated ears, large mouth, downturned corners, gingival hyperplasia, short forearms with Madelung deformity, hypoplastic toe nails; severe micropenis, undescended testis; rib fusion; normal renal ultrasound, ECG normal ROR2 ROR2 1 1 Johan den Dunnen
00406568 family PubMed: Mehawej 2012 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Lebanon - - - - - RRS see paper; ... ROR2 ROR2 4 2 Johan den Dunnen
00406601 family PubMed: Brunetti-Pierri 2008 3-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents F;M - United States - - - - - RRS - ROR2 ROR2 1 5 Johan den Dunnen
00406602 Pat1 PubMed: Rai 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes India - - - - - RRS see paper; ... ROR2 ROR2 1 1 Johan den Dunnen
00406603 Pat2 PubMed: Rai 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - India - - - - - RRS see paper; ... ROR2 ROR2 1 1 Johan den Dunnen
00406604 Pat3 PubMed: Rai 2021 3-generation family, 1 affected, unaffected non-carrier parents F - India - - - - - RRS see paper; ... - DVL3 1 1 Johan den Dunnen
00406605 Pat4 PubMed: Rai 2021 3-generation family, 1 affected F - India - - - - - RRS see paper; ... - DVL1 1 1 Johan den Dunnen
00406606 family PubMed: Yang 2020 2-generation family, 3 affected (2 fetuses), unaffected heterozygous carrier parents - - China - - - - - RRS see paper; ... - ROR2 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.