Waardenburg syndrome type 3

General Information (adopted from Orphanet):

Synonyms, Signs: WAARDENBURG SYNDROME, TYPE III
WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES
WS3
Waardenburg syndrome with limb anomalies
klein-waardenburg syndrome
Number of Symptoms 45
OrphanetNr: 896
OMIM Id: 148820
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Waardenburg syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
2
 (HPO:0000664) Synophrys 112 / 7739
3
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
4
 (HPO:0000303) Mandibular prognathia 179 / 7739
5
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
6
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
7
 (HPO:0000426) Prominent nasal bridge 121 / 7739
8
 (HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
9
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
10
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
11
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
12
 (HPO:0001100) Heterochromia iridis 31 / 7739
13
 (HPO:0007818) Central heterochromia 2 / 7739
14
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
15
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
16
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
17
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0001257) Spasticity 251 / 7739
20
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
21
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
22
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
23
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
24
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
25
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
26
 (HPO:0001159) Syndactyly 140 / 7739
27
 (HPO:0002211) White forelock 18 / 7739
28
 (HPO:0007443) Partial albinism 8 / 7739
29
 (HPO:0001053) Hypopigmented skin patches 80 / 7739
30
 (HPO:0002216) Premature graying of hair 43 / 7739
31
 (HPO:0001022) Albinism Frequent [Orphanet] 43 / 7739
32
 (HPO:0001063) Acrocyanosis Occasional [Orphanet] 56 / 7739
33
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
34
 (HPO:0002779) Tracheomalacia Occasional [Orphanet] 26 / 7739
35
 (HPO:0100750) Atelectasis Frequent [Orphanet] 17 / 7739
36
 (OMIM) Hypoplasia of the hand muscles 2 / 7739
37
 (MedDRA:10072883) Brachydactyly 153 / 7739
38
 (OMIM) Hypoplasia of the bones of the upper limbs and wrists 1 / 7739
39
 (OMIM) Hypopigmented iris 1 / 7739
40
 (OMIM) Bright blue eyes 3 / 7739
41
 (MedDRA:10058668) Clinodactyly 91 / 7739
42
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
43
 (OMIM) Contractures of the upper limb joints 1 / 7739
44
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
45
 (OMIM) Hypoplastic alae 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities ...
Clinical Description OMIM Klein (1950) first reported the association of limb anomalies with what has come to be recognized as the hallmarks of Waardenburg syndrome type 1, including pigmentary defects and sensorineural hearing loss. Single cases were reported by Wilbrandt and ...
Genotype-Phenotype Correlations OMIM Zlotogora et al. (1995) presented evidence that homozygosity for a PAX3 mutation can cause WS type 3. In a large kindred, including many individuals affected with WS type 1, a child was born affected with a very severe ...
Molecular genetics OMIM Milunsky et al. (1992) and Hoth et al. (1993) identified a heterozygous mutation in the PAX3 gene (N47H; 606597.0011) in a Yemenite/Russian Jewish family with the Klein-Waardenburg syndrome (Goodman et al., 1982 and Sheffer and Zlotogora, 1992). The ...