Microphthalmia with linear skin defects syndrome
ORPHA:2556· ICD-10 Q11.2
Definition
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked dominant
- Age of onset
- Neonatal