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Carpenter syndrome

Orpha number ORPHA65759
Synonym(s) ACPS 2
Acrocephalopolysyndactyly type 2
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS
  • C1275078
MeSH -
MedDRA -

Summary

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.

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.

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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