Karsch-Neugebauer syndrome
ORPHA:2329· ICD-10 Q87.2
Definition
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal