Oculootodental syndrome
ORPHA:99806· ICD-10 K07.8
Definition
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy