WAARDENBURG SYNDROME, TYPE 4C

General Information (adopted from Orphanet):

Synonyms, Signs: WAARDENBURG SYNDROME, TYPE IVC
WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C
WS4C
Number of Symptoms 18
OrphanetNr:
OMIM Id: 613266
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:0000135) Hypogonadism 89 / 7739
2
(HPO:0000028) Cryptorchidism 347 / 7739
3
(HPO:0000458) Anosmia rare [HPO:skoehler] 49 / 7739
4
(HPO:0002226) White eyebrow 10 / 7739
5
(HPO:0002227) White eyelashes 11 / 7739
6
(HPO:0000635) Blue irides 25 / 7739
7
(HPO:0001100) Heterochromia iridis 31 / 7739
8
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
9
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
10
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
11
(HPO:0002251) Aganglionic megacolon 78 / 7739
12
(HPO:0002216) Premature graying of hair 43 / 7739
13
(HPO:0001053) Hypopigmented skin patches 80 / 7739
14
(HPO:0002211) White forelock 18 / 7739
15
(OMIM) Decreased myenteric and submucosal ganglia in the bowel 4 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(HPO:0001425) Heterogeneous 132 / 7739
18
(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 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4C is caused by mutation in the SOX10 gene (602229). WS ...
Clinical Description OMIM Pingault et al. (1998) reported 4 patients with Waardenburg syndrome type 4C. Clinical features included bilateral profound hearing loss, short segment Hirschsprung disease, and pigmentary abnormalities, including white hair, blue irides with gray speckles, and depigmented skin patches, ...
Molecular genetics OMIM In 4 patients with Waardenburg-Shah syndrome, Pingault et al. (1998) identified 4 different heterozygous mutations in the SOX10 gene (602229.0001-602229.0004). Each mutation was predicted to result in loss of function, suggesting that the pathologic mechanism is haploinsufficiency. ...