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.
MONDO:0002254
syndromic disease
is_a
MONDO:0005267
heart disorder
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0024458
disorder of visual system
is_a
Houlston-Ironton-Temple syndrome
exact