WAARDENBURG SYNDROME, TYPE 2A

General Information (adopted from Orphanet):

Synonyms, Signs: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
WS2
WS2A
Number of Symptoms 11
OrphanetNr:
OMIM Id: 193510
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000431) Wide nasal bridge 290 / 7739
2
(HPO:0000664) Synophrys 112 / 7739
3
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
4
(HPO:0001100) Heterochromia iridis 31 / 7739
5
(HPO:0007990) Hypoplastic iris stroma 9 / 7739
6
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
7
(HPO:0002216) Premature graying of hair 43 / 7739
8
(HPO:0002211) White forelock 18 / 7739
9
(HPO:0007443) Partial albinism 8 / 7739
10
(OMIM) White eyebrows and eyelashes 3 / 7739
11
(OMIM) Dystopia canthorum absent 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, ...
Clinical Description OMIM Arias (1971) suggested the existence of 2 types of Waardenburg syndrome based in the presence or absence of dystopia canthorum. Hageman and Delleman (1977) presented family data supporting delineation of 2 types: type I, with dystopia canthorum; and ...
Molecular genetics OMIM Tassabehji et al. (1994) demonstrated heterozygous mutations in the MITF gene (156845.0001 and 156845.0002) in affected members of 2 families with Waardenburg syndrome type 2A. One of the families had been reported by Hughes et al. (1994). Inheritance ...