Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
ORPHA:77300· ICD-10 Q87.0
Definition
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal