Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

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Synonyms: Houlston-Ironton-Temple syndrome

A rare genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis in addition to radial (e.g. aplastic radius shortened ulna fifth finger clinodactyly absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus rectovaginal fistula) defects.

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 June 2024

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