Carpenter syndrome

Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.

It was first characterized in 1909.

Presentation
Carpenter syndrome presents several features:


 * Tower-shaped skull (craniosynostosis)
 * Additional or fused digits (fingers and toes)
 * Obesity
 * Reduced height

Mental deficiency is also common with the disorder, although some patients may have average intellectual capacity.

Genetics
Carpenter syndrome has been associated with mutations in the RAB23 gene, which is located on chromosome 6 in humans.