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Goodman syndrome

Disease definition

Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.

ORPHA:65798

  • Synonym(s):
    • ACPS4
    • Acrocephalopolysyndactyly type 4
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 201020
  • UMLS: C0265303
  • MeSH: -
  • GARD: 2549
  • MedDRA: -

Additional information

Further information on this disease

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