Carpenter syndrome

Carpenter syndrome
OMIM	201000
DiseasesDB	29583

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Synonyms and keywords: Acrocephalopolysyndactyly type 2, Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 4

Overview

Carpenter syndrome is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.

Historical Perspective

It was first characterized in 1909.

Pathophysiology

Genetics

Carpenter Syndrome has an autosomal recessive pattern of inheritance.

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

Diagnosis

Physical Examination

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.

See also

• Sakati-Nyhan-Tisdale syndrome