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Up to: Syndromic disease · Heart disorder · Disorder of visual system · Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly 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.

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