Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Definition
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 — per MONDO