WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 602418
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000126) Hydronephrosis 119 / 7739
2
(HPO:0000275) Narrow face 76 / 7739
3
(HPO:0000204) Cleft upper lip 193 / 7739
4
(HPO:0000347) Micrognathia 426 / 7739
5
(HPO:0000175) Cleft palate 349 / 7739
6
(HPO:0000218) High palate 356 / 7739
7
(HPO:0000601) Hypotelorism 83 / 7739
8
(HPO:0006315) Single median maxillary incisor 13 / 7739
9
(HPO:0000276) Long face 109 / 7739
10
(HPO:0009777) Absent thumb 31 / 7739
11
(HPO:0002984) Hypoplasia of the radius 44 / 7739
12
(HPO:0012165) Oligodactyly 18 / 7739
13
(HPO:0009623) Proximal placement of thumb 50 / 7739
14
(HPO:0001180) Hand oligodactyly 17 / 7739
15
(HPO:0005070) Proximal radial head dislocation 1 / 7739
16
(HPO:0006495) Aplasia/Hypoplasia of the ulna 7 / 7739
17
(HPO:0003027) Mesomelia 58 / 7739
18
(OMIM) Long narrow face 11 / 7739
19
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Weyers ulnar ray/oligodactyly syndrome is characterized by variable ulnar, radial, or fibular ray reduction, single central incisor, and renal, splenic, or cardiac anomalies. The original report (Weyers, 1957) described 2 sporadic cases. Elejalde et al. (1985) reported a ...