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Carpenter syndrome

Disease definition

A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.


Classification level: Disorder
  • Synonym(s):
    • ACPS2
    • Acrocephalopolysyndactyly type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Antenatal, Neonatal
  • ICD-10: Q87.0
  • ICD-11: LD24.GY
  • OMIM: 201000  614976
  • UMLS: C1275078
  • MeSH: C563187
  • GARD: 6003
  • MedDRA: 10081310
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