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.
Carol Karp is an Oncologist practicing medicine in Miami, Florida. Dr. Karp is rated as an Experienced provider by MediFind in the treatment of Gorlin-Chaudhry-Moss Syndrome. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Pterygium, Pinguecula, Melanoma of the Eye, Corneal Transplant, and Trabeculectomy. Dr. Karp is currently accepting new patients.
Sanford Bemidji Orthopedics &Amp; Sports Medicine Center
Dr. Kevin Murphy specializes in physical medicine and rehabilitation services for children with physical disabilities and adults with childhood-onset conditions. Dr. Murphy is rated as a Distinguished provider by MediFind in the treatment of Gorlin-Chaudhry-Moss Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Cerebral Palsy, Gorlin-Chaudhry-Moss Syndrome, Hemiplegia, and Spastic Diplegia Infantile Type. Dr. Murphy is board certified in American Board Of Physical Medicine And Rehabilitation: Pediatric Rehabilitation MedicineAmerican Board Of Physical Medicine And Rehabilitation.
LVPG Ear, Nose And Throat-1245 Cedar Crest
Sri Chennupati is an Otolaryngologist and a Pediatrics provider practicing medicine in Allentown, Pennsylvania. Dr. Chennupati is rated as an Advanced provider by MediFind in the treatment of Gorlin-Chaudhry-Moss Syndrome. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Crouzon Syndrome, Gorlin-Chaudhry-Moss Syndrome, Acrofrontofacionasal Dysostosis Syndrome, Stridor, and Adenoidectomy. Dr. Chennupati is board certified in American Board Of Otolaryngology - Otolaryngology.
Published Date: February 01, 2018
Published By: National Institutes of Health