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Waardenburg syndrome type 1

2q35 MIM.193500

Friday 2 February 2007

Autosomal dominant disease.

Synopsis

- smooth philtrum
- congenital sensorineural deafness
- laterally displaced inner canthi (dystopia canthorum)
- heterochromia iridis (complete or partial)
- hypoplastic iris stoma (more common in Type I)
- hypopigmented ocular fundus
- synophrys
- wide nasal bridge
- hypoplastic alae nasi
- cleft lip/palate
- mandibular prognathism
- supernumerary ribs
- absent vagina
- absent uterine adnexa
- aplasia of posterior semicircular canal on CT scan
- sprengel anomaly
- supernumerary vertebrae
- congenital partial albinism (leucoderma) on face, trunk, or limbs
- white forelock
- white eyelashes and eyebrows
- premature graying of hair
- spina bifida (17139175, 7897628)

Etiology

- PAX3 germline mutations

See also

- Waardenburg syndromes