Carpenter syndrome

Orpha code: 65759OMIM code: 201000

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.

Disease data
Classification

Malformation syndrome

Synonyms
ACPS2
ACPS2
Akrocefalopolisyndaktylia typu 2
Acrocephalopolysyndactyly type 2
ORPHA code
65759
OMIM code
201000
ICD10 code
Q87.0
ICD11 code
LD24.GY

No additional description.

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