Phenotypes for disease #00180 (RRS (Robinow syndrome, autosomal recessive (RRS)))

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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98 entries on 1 page. Showing entries 1 - 98.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000237065	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311810
0000237066	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311811
0000237067	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311812
0000237068	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311813
0000237069	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311814
0000237070	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311815
0000237071	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311816
0000237072	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311817
0000237073	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311818
0000237074	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311819
0000237082	-	normal	RRS1	-	-	-	-	-	-	Jacopo Celli	00311834
0000237086	Robinow syndrome, syringomyelia	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311838
0000237087	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311839
0000237088	-	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311840
0000237090	severe brachydactyly (BDB1); patient BDB_005 has deletion of the same region	Robinow syndrome	RRS1	-	-	-	-	-	-	Jacopo Celli	00311842
0000237098	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	Robinow syndrome	RRS2	Familial, autosomal recessive	5y	-	-	-	-	Johan den Dunnen	00311850
0000237099	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	Robinow syndrome	RRS2	Familial, autosomal recessive	2y5m	-	-	-	-	Johan den Dunnen	00311851
0000237100	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	Robinow syndrome	RRS2	Familial, autosomal recessive	28d	-	-	-	-	Johan den Dunnen	00311852
0000237101	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	Robinow syndrome	NEDBAF	Isolated (sporadic)	13y02m	-	-	-	-	Johan den Dunnen	00311853
0000237102	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	Robinow syndrome	-	Unknown	8y	-	-	-	-	Johan den Dunnen	00311854
0000237103	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	Robinow syndrome	OMOD2	Isolated (sporadic)	10y3m	-	-	-	-	Johan den Dunnen	00311855
0000237104	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	Robinow syndrome	OMOD2	Isolated (sporadic)	5y8m	-	-	-	-	Johan den Dunnen	00311856
0000237105	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	Robinow syndrome	OMOD2	Familial, autosomal dominant	15y	-	-	-	-	Johan den Dunnen	00311857
0000237106	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	Robinow syndrome	OMOD2	Familial, autosomal dominant	47y	-	-	-	-	Johan den Dunnen	00311858
0000237107	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	Robinow syndrome	OMOD2	Familial, autosomal dominant	6y7m	-	-	-	-	Johan den Dunnen	00311859
0000237108	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	Robinow syndrome	OMOD2	Familial, autosomal dominant	30y	-	-	-	-	Johan den Dunnen	00311860
0000237111	see paper; ...	Robinow syndrome	DRS2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00311863
0000237112	see paper; ...	Robinow syndrome	DRS2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00311864
0000237113	see paper; ...	Robinow syndrome	DRS2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00311865
0000237114	see paper; ...	Robinow syndrome	DRS2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00311866
0000237115	see paper; ...	Robinow syndrome	DRS2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00311867
0000237116	see paper; ...	Robinow syndrome	DRS2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00311868
0000237117	see paper; ...	Robinow syndrome	DRS3	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00311869
0000237118	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	Robinow syndrome	DRS1	Familial, autosomal dominant	07y	-	-	-	-	Johan den Dunnen	00311870
0000237119	see paper; ..., infancy slow linear growth, acromesomelia, hypertelorism, prominent forehead	Robinow syndrome	DRS1	Familial, autosomal dominant	17y	-	-	-	-	Johan den Dunnen	00311871
0000237120	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	Robinow syndrome	OPSMD	Familial, autosomal dominant	00y00m12d	-	-	-	-	Johan den Dunnen	00311872
0000237121	see paper; ...	Robinow syndrome	AAS	Familial, X-linked recessive	-	-	-	-	-	Johan den Dunnen	00311873
0000237122	see paper; ...	Robinow syndrome	AAS	Familial, X-linked recessive	-	-	-	-	-	Johan den Dunnen	00311874
0000237123	see paper; ...	Robinow syndrome	NS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00311875
0000237132	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	Robinow syndrome	DRS2	Familial, autosomal dominant	9y	-	-	-	-	Johan den Dunnen	00311885
0000237133	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	Robinow syndrome	DRS2	Familial, autosomal dominant	20y	-	-	-	-	Johan den Dunnen	00311886
0000237134	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	Robinow syndrome	DRS2	Familial, autosomal dominant	28m	-	-	-	-	Johan den Dunnen	00311887
0000237135	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)	Robinow syndrome	DRS2	Familial, autosomal dominant	20y	-	-	-	-	Johan den Dunnen	00311888
0000237136	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	Robinow syndrome	DRS2	Familial, autosomal dominant	21y	-	-	-	-	Johan den Dunnen	00311889
0000237137	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	Robinow syndrome	DRS2	Familial, autosomal dominant	21y	-	-	-	-	Johan den Dunnen	00311890
0000237138	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	Robinow syndrome	DRS2	Familial, autosomal dominant	15y6m	-	-	-	-	Johan den Dunnen	00311891
0000237139	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	Robinow syndrome	DRS2	Familial, autosomal dominant	18y	-	-	-	-	Johan den Dunnen	00311892
0000237143	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	Robinow syndrome	DRS2	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00311894
0000237144	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	Robinow syndrome	DRS2	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00311895
0000237145	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	Robinow syndrome	DRS2	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00311896
0000237146	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	Robinow syndrome	DRS2	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00311897
0000237147	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	Robinow syndrome	DRS3	Familial, autosomal dominant	27y	-	-	-	-	Johan den Dunnen	00311898
0000237148	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	Robinow syndrome	DRS3	Familial, autosomal dominant	10y	-	-	-	-	Johan den Dunnen	00311899
0000237149	see paper; ...	Robinow syndrome	DRS3	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00311900
0000237150	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	Robinow syndrome	DRS3	Isolated (sporadic)	19m	-	-	-	-	Johan den Dunnen	00311901
0000237151	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	Robinow syndrome	DRS3	Isolated (sporadic)	33y	-	-	-	-	Johan den Dunnen	00311902
0000287990	core nervous system anomalies, seizure, facial dysmorphism	Robinow syndrome	RRS2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00394790
0000299008	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406533
0000299009	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406534
0000299010	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406535
0000299011	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406536
0000299013	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406538
0000299014	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406539
0000299015	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406540
0000299016	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406541
0000299017	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406542
0000299018	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406543
0000299019	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406544
0000299020	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406545
0000299021	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406546
0000299022	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406547
0000299023	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406548
0000299024	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406549
0000299025	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406550
0000299026	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406551
0000299028	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406553
0000299029	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	Robinow syndrome	RRS1	Familial, autosomal recessive	1y6m	-	-	-	-	Johan den Dunnen	00406554
0000299030	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	Robinow syndrome	RRS1	Familial, autosomal recessive	3y3m	-	-	-	-	Johan den Dunnen	00406555
0000299031	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	Robinow syndrome	RRS1	Familial, autosomal recessive	3y4m	-	-	-	-	Johan den Dunnen	00406556
0000299032	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	Robinow syndrome	RRS1	Familial, autosomal recessive	5y4m	-	-	-	-	Johan den Dunnen	00406557
0000299033	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	Robinow syndrome	RRS1	Familial, autosomal recessive	5m	-	-	-	-	Johan den Dunnen	00406558
0000299034	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	Robinow syndrome	RRS1	Familial, autosomal recessive	5y	-	-	-	-	Johan den Dunnen	00406559
0000299035	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	Robinow syndrome	RRS1	Familial, autosomal recessive	4y	-	-	-	-	Johan den Dunnen	00406560
0000299036	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	Robinow syndrome	RRS1	Familial, autosomal recessive	4y	-	-	-	-	Johan den Dunnen	00406561
0000299037	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	Robinow syndrome	RRS1	Familial, autosomal recessive	4y	-	-	-	-	Johan den Dunnen	00406562
0000299038	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	Robinow syndrome	RRS1	Familial, autosomal recessive	9m	-	-	-	-	Johan den Dunnen	00406563
0000299039	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	Robinow syndrome	RRS1	Familial, autosomal recessive	6y6m	-	-	-	-	Johan den Dunnen	00406564
0000299040	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	Robinow syndrome	RRS1	Familial, autosomal recessive	24y	-	-	-	-	Johan den Dunnen	00406565
0000299041	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	Robinow syndrome	RRS1	Familial, autosomal recessive	03y	-	-	-	-	Johan den Dunnen	00406566
0000299042	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	Robinow syndrome	RRS1	Familial, autosomal recessive	00y00m01d	-	-	-	-	Johan den Dunnen	00406567
0000299043	see paper; ...	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406568
0000299076	see paper; ...	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406602
0000299077	see paper; ...	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406603
0000299078	see paper; ...	Robinow syndrome	DRS3	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00406604
0000299079	see paper; ...	Robinow syndrome	DRS2	Unknown	-	-	-	-	-	Johan den Dunnen	00406605
0000299080	see paper; ...	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00406606
0000299083	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00394788
0000299084	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	Robinow syndrome	RRS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00394789

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Global Variome shared LOVD

DNAJC5 (DnaJ (Hsp40) homolog, subfamily C, member 5)