Waardenburg syndrome, type 3

Preferred Label : Waardenburg syndrome, type 3;

Symbol : WS3;

CISMeF acronym : WS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Klein-waardenburg syndrome; Waardenburg syndrome with upper limb anomalies; Waardenburg syndrome, type III;

Description : 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 (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). - Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the paired box gene 3 (PAX3, 606597.0009);

Prefixed ID : #148820;

Details

Origin ID

148820;

UMLS CUI

C0079661;

Automatic exact mappings (from CISMeF team)
- PAX3 wt Allele [NCIt concept]
- Waardenburg syndrome type 3 [ICD-11 More detail]
- Waardenburg syndrome type 3 (disorder) [Inactive SNOMED CT concept]
- waardenburg syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Waardenburg Klein syndrome [Disease (Nov.)]
- Waardenburg syndrome type 3 [DO Concept]
- Waardenburg syndrome type 3 [ORDO Disease]
DO Cross reference
- Waardenburg syndrome type 3 [DO Concept]
False automatic mappings
- klein syndrome [MeSH concept]
Genes related to phenotype
- Paired box gene 3 [OMIM gene]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Autosomal dominant contiguous gene syndrome [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Blue irides [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly of finger [HPO term]
- Carpal synostosis [HPO term]
- Clinodactyly [HPO term]
- Congenital partial albinism (leucoderma) on face, trunk, or limbs [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Heterochromia iridis [HPO term]
- Hypopigmented skin patches [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Partial albinism [HPO term]
- Premature graying of hair [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nasal root [HPO term]
- Scapular winging [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spastic paraplegia [HPO term]
- Synophrys [HPO term]
- Telecanthus [HPO term]
- Variable expressivity [HPO term]
- White forelock [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Waardenburg syndrome [ORDO Disease]
- Waardenburg syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg Klein syndrome [Disease (Nov.)]
- Waardenburg syndrome type 3 [ORDO Disease]
- Waardenburg syndrome type 3 [DO Concept]
- Waardenburg syndrome type 3 (disorder) [Inactive SNOMED CT concept]
- Waardenburg syndrome type 3 (disorder) [SNOMED CT concept]
- klein syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Waardenburg syndrome [Disease (Nov.)]

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