Gorlin-Chaudhry-Moss SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Gorlin-Chaudhry-Moss Syndrome
Gorlin-Chaudhry-Moss syndrome is a condition that affects many parts of the body. The signs and symptoms of this disorder are apparent from birth or infancy.
Gorlin-Chaudhry-Moss syndrome can be caused by mutations in the SLC25A24 gene. This gene provides instructions for producing a protein that transports molecules across the inner membrane of the mitochondria, the energy-producing centers in cells. Among these molecules is ATP, which is the cell's main energy source. Transportation of ATP within the mitochondria is essential for normal energy production, the formation and breakdown (metabolism) of various molecules, and protein production within cells.
Gorlin-Chaudhry-Moss syndrome is an extremely rare condition. Approximately ten affected individuals have been described in the medical literature. All known individuals with this condition have been female.
In individuals with an SLC25A24 gene mutation, Gorlin-Chaudhry-Moss syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, the condition results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development.
Foothills Neurology
Dr. Hetrick has been practicing neurology in Ahwatukee since 1998. He received his neurology training at Walter Reed Army Medical Center in Washington, DC as well as at the Medical College of Virginia in Richmond. He spent 12 years in the U.S. Army as a Medical Officer treating service related injuries including head injury. He is fellowship trained in Headache and Migraine at the prestigious Barrow Neurology in Phoenix. Dr. Hetrick has been involved in numerous medical research studies involving new treatments for migraine. He serves as a speaker for Allergan and trains fellow neurologists on proper injection techniques of Botox. He continues to see veterans for evaluation of blast related head injury and is one of the few neurologists nationwide approved by the NFL to evaluate retired NFL players for chronic traumatic encephalopathy.At Foothills Neurology we take a professional and caring approach to the treatment of our patients. We are sympathetic to our patient?s concerns and needs. The staff at Foothills Neurology treat a variety of neurological issues and take a special interest in treating headache patients. Please contact our office at 480-961-2365 to see how we can help you. Dr. Hetrick is rated as an Advanced provider by MediFind in the treatment of Gorlin-Chaudhry-Moss Syndrome. His top areas of expertise are Migraine, Migraine with Brainstem Aura, Charles Bonnet Syndrome, and Neuralgia.
Fogelson Plastic & Craniofacial Surgery - Children's Specialty Center Dallas
Alex Kane is a Plastic Surgeon in Dallas, Texas. Dr. Kane is rated as an Advanced provider by MediFind in the treatment of Gorlin-Chaudhry-Moss Syndrome. His top areas of expertise are Craniosynostosis, Metopic Ridge, Plagiocephaly, Craniectomy, and Osteotomy.
Plastic Surgery Department
Davinder Singh is a Plastic Surgeon in Phoenix, Arizona. Dr. Singh is rated as an Advanced provider by MediFind in the treatment of Gorlin-Chaudhry-Moss Syndrome. Her top areas of expertise are Baller-Gerold Syndrome, Metopic Ridge, Craniosynostosis, and Lambdoid Synostosis. Dr. Singh is currently accepting new patients.
Published Date: February 01, 2018
Published By: National Institutes of Health