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 http://www.orphadata.org. Data version April 2026
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Aniridia-renal agenesis-psychomotor retardation syndrome?
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Advocacy Organizations
Aniridia North America
Represent, serve, and support the North American community of persons affected by aniridia and their families, patient advocacy organizations, and clinicians and scientists
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.