Waardenburg syndrome type 1

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