Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

MONDO:0013999

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.

Also known as: ROSAH, ROSAH syndrome, optic nerve edema-splenomegaly syndrome, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache, splenomegaly, cytopenia, and vision loss

11 clinical trials for this condition and its sub-types.

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