Aniridia-renal agenesis-psychomotor retardation syndrome

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Aniridia-renal agenesis-psychomotor retardation syndrome

Synonyms: Sommer-Rathbun-Battles syndrome

An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia congenital glaucoma telecanthus) with frontal bossing hypertelorism unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.

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 Data version February 2024

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