Orphanet: Acrocardiofacial syndrome

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Acrocardiofacial syndrome

Disease definition

A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.


Classification level: Disorder
  • Synonym(s):
    • ACFS
    • CCGE syndrome
    • Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 600460
  • UMLS: C1838121
  • MeSH: -
  • GARD: 1167
  • MedDRA: -

Detailed information


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