Carpenter syndrome

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Disease Overview

Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner.[8213] Treatment focuses on the specific features in each affected person.[8217] Life expectancy is shortened but very variable.[8213]


Synonyms

  • Acrocephalopolysyndactyly type 2
  • ACPS 2
  • Acrocephalosyndactyly, type II
  • Carpenter syndrome 1
  • CRPT1

For more information, visit GARD.

National Organization for Rare Disorders