Descriptors Found: 1
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Descriptor English:   Waardenburg Syndrome 
Descriptor Spanish:   síndrome de Waardenburg 
Descriptor Portuguese:   Síndrome de Waardenburg 
Synonyms English:   Klein Syndrome
Klein Waardenburg Syndrome
Klein's Syndrome
Klein-Waardenburg Syndrome
Kleins Syndrome
Syndrome, Klein
Syndrome, Klein's
Syndrome, Klein-Waardenburg
Syndrome, Waardenburg
Syndrome, Waardenburg's
Syndrome, Waardenburg-Klein
Waardenburg Klein Syndrome
Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 3
Waardenburg Syndrome with Dystopia Canthorum
Waardenburg Syndrome with Upper Limb Anomalies
Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3
Waardenburg Syndrome, Type III
Waardenburg's Syndrome
Waardenburg's Syndrome Type 1
Waardenburg-Klein Syndrome
Waardenburgs Syndrome
White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations  
Tree Number:   C16.131.077.938
Definition English:   Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. 
See Related English:   Piebaldism
History Note English:   2013 (1966); use ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   15250 
Unique Identifier:   D014849 

Occurrence in VHL: