WAARDENBURG SYNDROME, TYPE 4A

General Information (adopted from Orphanet):

Synonyms, Signs: SHAH-WAARDENBURG SYNDROME
WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A
WAARDENBURG-SHAH SYNDROME
WAARDENBURG SYNDROME, TYPE IVA
WS4
WS4A
Number of Symptoms 12
OrphanetNr:
OMIM Id: 277580
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002226) White eyebrow 10 / 7739
2
(HPO:0002227) White eyelashes 11 / 7739
3
(HPO:0001100) Heterochromia iridis 31 / 7739
4
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
5
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
6
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
7
(HPO:0002251) Aganglionic megacolon 78 / 7739
8
(HPO:0002216) Premature graying of hair 43 / 7739
9
(HPO:0001053) Hypopigmented skin patches 80 / 7739
10
(HPO:0002211) White forelock 18 / 7739
11
(OMIM) Decreased myenteric and submucosal ganglia in the bowel 4 / 7739
12
(OMIM) Bright blue irides 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and ...
Clinical Description OMIM McKusick (1973); Lowry (1975), and Omenn and McKusick (1979) noted the frequent occurrence of Hirschsprung disease (aganglionic megacolon; 142623) in patients with Waardenburg syndrome. Fraser (1976) described a deaf male with no family history of deafness, complete blue-green ...
Molecular genetics OMIM In individuals with Hirschsprung disease as well as bicolored irides (6.3%), hypopigmentation (2.5%), sensorineural hearing loss (5.1%), and white forelock (7.6%) suggestive of WS4, Puffenberger et al. (1994) identified a mutation in the EDNRB gene (131244.0001). The mutation ...