Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

Orpha code: 313800OMIM code: 614979

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.

Disease data
Classification

Disease

Synonyms
Optic nerve edema-splenomegaly syndrome
Zespół dystrofia siatkówki-obrzęk nerwu wzrokowego-splenomegalia-brak potliwości-migrenowy ból głowy
ROSAH syndrome
ORPHA code
313800
OMIM code
614979
ICD10 code
-
ICD11 code
-

No additional description.

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