What Is Carpenter Syndrome?
Carpenter syndrome is a rare genetic condition involving craniosynostosis. Here is an overview.
Carpenter syndrome (also called acrocephalopolysyndactyly type II) is a rare genetic condition characterized by craniosynostosis, facial features, and limb abnormalities.
- Key features:
- Craniosynostosis (fusion of multiple skull sutures)
- Flat nasal bridge
- Low-set, malformed ears
- Heart defects (in some cases)
- Short stature
- Obesity (develops in childhood)
- Intellectual disability (variable)
- Polysyndactyly (extra and fused fingers/toes)
- Treatment:
- Skull surgery in infancy to relieve pressure
- Hand surgery to separate fused digits
- Heart evaluation and treatment (if needed)
- Ongoing monitoring for obesity
- Educational support
Clinical Guidance
Carpenter syndrome is a rare condition with craniosynostosis, obesity, developmental delay, and limb differences requiring multidisciplinary care and multiple surgeries.