WAARDENBURG SYNDROME, TYPE 4B

General Information (adopted from Orphanet):

Synonyms, Signs: WAARDENBURG SYNDROME, TYPE IVB
WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE
WS4B
Number of Symptoms 16
OrphanetNr:
OMIM Id: 613265
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:0000635) Blue irides 25 / 7739
4
 (HPO:0001100) Heterochromia iridis 31 / 7739
5
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
7
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
8
 (HPO:0002251) Aganglionic megacolon 78 / 7739
9
 (HPO:0002216) Premature graying of hair 43 / 7739
10
 (HPO:0001053) Hypopigmented skin patches 80 / 7739
11
 (HPO:0002211) White forelock 18 / 7739
12
 (OMIM) Decreased myenteric and submucosal ganglia in the bowel 4 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Bright blue irides 4 / 7739
15
 (HPO:0001425) Heterogeneous 132 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 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 4B is caused by mutation in the EDN3 gene (131242). WS ...
Clinical Description OMIM Edery et al. (1996) reported a 4-year-old girl with Waardenburg-Shah syndrome. She had colonic aganglionosis, bilateral sensorineural hearing loss, and pigmentary anomalies, including achromic patches of the skin, white eyelashes, pale blue retina, but absence of dystopia canthorum ...
Molecular genetics OMIM In a patient with WS4, Edery et al. (1996) identified a homozygous substitution/deletion mutation of the EDN3 gene (131242.0001).

In a child with WS4, Pingault et al. (2001) identified a heterozygous nonsense mutation in the EDN3 ...