Carpenter syndrome

Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).

1. What causes Carpenter syndrome?
2. Is there a cure for Carpenter syndrome?
3. How is Carpenter syndrome diagnosed?
4. How common is Carpenter syndrome?

What causes Carpenter syndrome?

Most cases are caused by mutations in the RAB23 gene. In several affected individuals, Carpenter syndrome was caused by mutations in the MEGF8 gene; these individuals are referred to as having Carpenter syndrome type 2. Both types of Carpenter syndrome are inherited in an autosomal recessive manner.

Is there a cure for Carpenter syndrome?

The treatment of Carpenter syndrome is focused on correction of the abnormal skull shape. It is the same as the treatment of craniosynostosis. Surgical correction of the craniosynostosis associated with Carpenter syndrome is most often initiated between 6 and 12 months of age.

How is Carpenter syndrome diagnosed?

Diagnosis. Since Carpenter syndrome is a genetic disorder, an infant is born with it. Diagnosis is based on the symptoms the child has, such as the appearance of the skull, face, fingers, and toes. There is no blood test or X-ray needed; Carpenter syndrome is typically diagnosed solely through a physical examination.

How common is Carpenter syndrome?

Carpenter syndrome is an extremely rare condition affecting the skull and facial bones, as well as the bones of the hands and feet. It is estimated to occur in approximately 1 in 1,000,000 births.