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Goodman syndrome

Orpha number ORPHA65798
Synonym(s) ACPS 4
Acrocephalopolysyndactyly type 4
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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, ulnar deviation), and congenital heart disease. The syndrome is inherited as an autosomal recessive trait. Goodman syndrome could be a variant of Carpenter syndrome (acrocephalopolysyndactyly type II).

Expert reviewer(s)

  • Dr Martine LE MERRER
Last update: October 2005

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