Orphanet: Atrioventricular defect blepharophimosis radial and anal defect syndrome
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Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Disease definition

A rare, genetic multiple congenital anomalies 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.

ORPHA:1352

Classification level: Disorder
  • Synonym(s):
    • Houlston-Ironton-Temple syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 600123
  • UMLS: C1838606
  • MeSH: -
  • GARD: 2742
  • MedDRA: -
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