Disease #00577 (DRS (Robinow syndrome, autosomal dominant (DRS)))

Official abbreviation DRS
Name Robinow syndrome, autosomal dominant (DRS)
OMIM ID -
Inheritance Autosomal dominant
Individuals reported having this disease 10
Phenotype entries for this disease 9
Associated with 3 genes DVL1, DVL3, WNT5A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00065218 26924530 BAB7990 PubMed: White 2016, Journal: White 2016 2-generation family, affected father/daughter F - - white >14y - - - DRS Midface retrusion (HP:0011800), Hypertelorism (HP:0000316), Upslanting palpebral fissures (HP:0000582), Long eyelashes (HP:0000527), Proptosis (HP:0000520), Blue sclerae (HP:0000592), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Gingival overgrowth (HP:0000212), cleft palate (HP:0000175), Bilobed and short tongue (HP:0000157), Misalignment of teeth (HP:0000692), Micrognathia (HP:0000347). Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084), Syndactyly (HP_0001159), Camptodactyly (HP:0012385), Broad thumb (HP:0011304), Short phalanx of finger (HP:0009803), Broad first toe (HP:0001837), Abnormality of the sternum (HP:0000766). Sacral dimple (HP:0000960), Clitoral hypoplasia (HP:0000060), Vesicoureteral reflux (HP_0000076), Omphalocele (HP_0001539) DVL3 DVL3 1 2 Pieter Klap
00065222 26924530 BAB7982 PubMed: White 2016, Journal: White 2016 - M - - white >12y - - - DRS Frontal bossing (HP:0002007), High forehead (HP:0000348), Midface retrusion (HP:0011800), Hypertelorism (HP:0000316), Upslanting palpebral fissures (HP:0000582), Long eyelashes (HP:0000527), Proptosis (HP:0000520), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Cleft upper lip (HP:0000204), cleft palate (HP:0000175), Micrognathia (HP:0000347), Low-set ears (HP:0000369). Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084) Cryptorchidism (HP:0000028), Micropenis (HP:0000054) DVL3 DVL3 1 1 Pieter Klap
00065226 26924530 BAB4569 PubMed: White 2016, Journal: White 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - white >35y - - - DRS Midface retrusion (HP:0011800), Telecanthus (HP:0000506), Proptosis (HP:0000520), Blue sclerae (HP:0000592), Epicanthus (HP:0000286), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Triangular mouth (HP:0000207), Gingival overgrowth (HP:0000212), cleft palate (HP:0000175), Bilobed tongue (HP:0000157), Agenesis of permanent teeth (HP:0006349), Micrognathia (HP:0000347). Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084), Abnormality of the sternum (HP:0000766). Hearing impairment (HP:0000365) DVL3 DVL3 1 1 Pieter Klap
00065230 26924530-Pat015902 PubMed: White 2016, Journal: White 2016 2-generation family, affected mother/daughter; daughter F - - white >38y - - - DRS Frontal bossing (HP:0002007), Midface retrusion (HP:0011800), Telecanthus (HP:0000506), Upslanting palpebral fissures (HP:0000582), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Gingival overgrowth (HP:0000212), Bilobed tongue (HP:0000157), Agenesis of permanent teeth (HP:0006349), Webbed neck (HP:0000465). Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084) Broad first toe (HP:0001837). Umbilical hernia (HP:0001537). DVL3 DVL3 1 2 Pieter Klap
00311876 Fam1 PubMed: Roifman 2015 3-generation family, affected mother/son F;M - Germany;Italy;United Kingdom (Great Britain) - - - - - DRS see paper; ..., mesomelic short stature, limb shortening, malar hypoplasia, hypertelorism, short flat nose, low set ears, limited suppination, persistent primary teeth, brachydactyly, bilateral cryptorchidism, genital hypoplasia (1/2); radiography short long bones, bilateral radial head dislocation WNT5A WNT5A 1 2 Johan den Dunnen
00311877 Fam2 PubMed: Roifman 2015 - M - Netherlands;Spain - - - - - DRS see paper; ..., short stature with limb shortening, hypertelorism, short flat nose, brachydactyly, bilateral cryptorchidism, genital hypoplasia WNT5A WNT5A 1 1 Johan den Dunnen
00311878 Fam3 PubMed: Roifman 2015 family, 3 affected F - Turkey - - - - - DRS see paper; ..., short stature, mesomelic limb shortening, brachydactyly, large anterior fontanel, hypertelorism, prominent eyes, bilateral epicanthic folds, wide down‐slanting palpebral fissures, flat midface, short upturned nose, broad nasal bridge, anteverted nares, long philtrum, gingival hyperplasia, short oral frenulum, posteriorly rotated ears, micrognathia., genital hypoplasia, sacral dimple, hairy sacral patch; radiography short long bones WNT5A WNT5A 1 3 Johan den Dunnen
00311879 family PubMed: Person 2010 5-generation family, 8 affected (5F, 3M) F;M - United States - - - - - DRS see paper; ..., short stature, mesomelic limb shortening, hypertelorism, mandibular hypoplasia, irregular dental alignment, genital hypoplasia; radiography short long bones WNT5A WNT5A 1 8 Johan den Dunnen
00311880 Pat2 PubMed: Person 2010 2-generation family, 1 affected, unaffected parents - - United States - - - - - DRS hypertelorism, short nose, short stature, mesomelic shortening limbs WNT5A WNT5A 1 1 Johan den Dunnen
00394787 BAB10151 PubMed: Zhang 2021 2-generation family, 1 affected, unaffected non-carrier mother F - United States - - - - - DRS - DVL1 DVL1 1 1 Johan den Dunnen
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