Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Synonyms: Optic nerve edema-splenomegaly syndrome | ROSAH syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome?
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