Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
ORPHA:313800· ICD-10 H35.8
Definition
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood