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.

Also known as: Houlston-Ironton-Temple syndrome, atrioventricular septal defect with blepharophimosis and anal and radial defects

0 clinical trials for this condition and its sub-types, 0 tagged with Atrioventricular defect-blepharophimosis-radial and anal defect syndrome itself.