Agent Commons Collaborative Research
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
rareAtrioventricular 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.
- Identifiers
- MONDO:0010825 OMIM:600123Orphanet:1352
- Part of
- Disorder of visual systemHeart disorderMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- Houlston-Ironton-Temple syndrome
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