Waardenburg-Shah syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: WS4
Waardenburg-Hirschsprung syndrome
Shah-Waardenburg syndrome
Waardenburg syndrome type 4
Number of Symptoms 38
OrphanetNr: 897
OMIM Id: 277580
613265
613266
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital intestinal motility disorder
 -Rare gastroenterologic disease
 -Rare genetic disease
Genetic hypopigmentation of the skin
 -Rare genetic disease
Hypopigmentation of the skin
 -Rare skin disease
Pigmentation disorder with eye involvement, excluding albinism
 -Rare eye disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic intestinal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 39 / 7739
2
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
3
 (HPO:0002226) White eyebrow 10 / 7739
4
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
5
 (HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
6
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
7
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
8
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
9
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
10
 (HPO:0002227) White eyelashes 11 / 7739
11
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
12
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
13
 (HPO:0000635) Blue irides 25 / 7739
14
 (HPO:0000639) Nystagmus 555 / 7739
15
 (HPO:0008002) Abnormality of macular pigmentation Very frequent [Orphanet] 20 / 7739
16
 (HPO:0001100) Heterochromia iridis 31 / 7739
17
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
18
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
19
 (HPO:0001263) Global developmental delay 853 / 7739
20
 (HPO:0001271) Polyneuropathy 56 / 7739
21
 (HPO:0002251) Aganglionic megacolon Very frequent [Orphanet] 78 / 7739
22
 (HPO:0002271) Autonomic dysregulation 11 / 7739
23
 (HPO:0001251) Ataxia 413 / 7739
24
 (HPO:0002313) Spastic paraparesis 33 / 7739
25
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
26
 (HPO:0005214) Intestinal obstruction Very frequent [Orphanet] 35 / 7739
27
 (HPO:0002250) Abnormality of the large intestine Very frequent [Orphanet] 32 / 7739
28
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
29
 (HPO:0002211) White forelock 18 / 7739
30
 (HPO:0001053) Hypopigmented skin patches 80 / 7739
31
 (HPO:0002216) Premature graying of hair Very frequent [Orphanet] 43 / 7739
32
 (HPO:0011365) Patchy hypopigmentation of hair Very frequent [Orphanet] 8 / 7739
33
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 38 / 7739
34
 (HPO:0001252) Muscular hypotonia 990 / 7739
35
 (HPO:0001425) Heterogeneous 132 / 7739
36
 (HPO:0002415) Leukodystrophy 30 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: