Introduction
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones, abnormalities of the fingers and toes, and other developmental problems.
Symptoms
Carpenter syndrome presents several features: craniosynostosis, additional or fused digits, obesity, reduced height, undescended testes. Intellectual disability is also common with the disorder, although some patients may have average intellectual capacity.
Causes
Mutations in the RAB23 or MEGF8 gene cause Carpenter syndrome.
Prevalence
Unknown
Links
https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/carpenter-syndrome/