Carpenter Syndrome Overview
Learn About 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.
Mutations in the RAB23 or MEGF8 gene cause Carpenter syndrome.
Carpenter syndrome is thought to be a rare condition; approximately 70 cases have been described in the scientific literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Nursel Elcioglu practices in Mersin, Turkey. Elcioglu is rated as an Elite expert by MediFind in the treatment of Carpenter Syndrome. Their top areas of expertise are Carpenter Syndrome, Arthrogryposis Multiplex Congenita, Congenital Contractures, and Brachyolmia.
Andrew Wilkie practices in Oxford, United Kingdom. Mr. Wilkie is rated as a Distinguished expert by MediFind in the treatment of Carpenter Syndrome. His top areas of expertise are Craniosynostosis, Carpenter Syndrome, Syndactyly, Acromicric Dysplasia, and Gastrostomy.
Meena Balasubramanian practices in Adelaide, Australia. Ms. Balasubramanian is rated as a Distinguished expert by MediFind in the treatment of Carpenter Syndrome. Her top areas of expertise are Osteogenesis Imperfecta, Carpenter Syndrome, Hydrocephalus Skeletal Anomalies, and Recessive Chondrodysplasia Punctata 1.
Published Date: May 01, 2013
Published By: National Institutes of Health