Carpenter syndrome (acrocephalopolysyndactyly type 2)

Pathology

• autosomal recessive
• associated with defects in RAB23

Clinical manifestations

• craniosynostosis,
• polysyndactyly
• obesity
• cardiac defects

More general terms

• acrocephalopolysyndactyly

Database

• OMIM: https://mirror.omim.org/entry/201000