Carpenter syndrome

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Carpenter syndrome

Synonyms: ACPS2 | Acrocephalopolysyndactyly type 2

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Carpenter syndrome?

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