Carpenter SyndromeSymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Mersin, Turkey. Elcioglu is rated as an Elite expert by MediFind in the treatment of Carpenter Syndrome. They are also highly rated in 31 other conditions, according to our data. Their clinical expertise encompasses Carpenter Syndrome, Brachyolmia, Congenital Contractures, and Arthrogryposis Multiplex Congenita.
Bassett Health Center Cobleskill
. Dr. Novak is rated as an Experienced provider by MediFind in the treatment of Carpenter Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Relapsing Multiple Sclerosis (RMS), Enlarged Prostate (BPH), Type 2 Diabetes (T2D), and Lymphangitis.
Bassett Health Center Little Falls Primary Care
. Dr. Grace is rated as an Experienced provider by MediFind in the treatment of Carpenter Syndrome. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Hypothyroidism, Obesity in Children, Enlarged Prostate (BPH), and Familial Hypertension.
Published Date: May 01, 2013
Published By: National Institutes of Health