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Carpenter syndrome

Synonym(s) ACPS2
Acrocephalopolysyndactyly type 2
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Antenatal
  • Q87.0
  • C1275078
MeSH -
MedDRA -


Disease definition

Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.


It is a very rare disease; approximately 40 cases have been described in the literature.

Clinical description

It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Congenital heart disease, umbilical hernia, prolonged retention of primary teeth and hypodontia may be present. In older patients obesity, mental retardation and hypogonadism have been noted. In all cases the parents have been normal. Marked intrafamilial variability is possible. Some researchers state that Summitt and Goodman syndromes (Acrocephalopolysyndactyly Type IV, ACPS IV) are within the clinical spectrum of Carpenter syndrome.


Carpenter syndrome is inherited as an autosomal recessive trait. Parental consanguinity was suspected in one case.

Management and treatment

Early cranio-facial surgery is recommended to improve the chances of normal mentality. If heart defects are present at birth, surgery may also be required. Follow-up support by pediatric, psychological, neurological, surgical, and genetic specialists may be necessary.

Expert reviewer(s)

  • Dr Martine LE MERRER

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