Saethre-Chotzen SyndromeSymptoms, Doctors, Treatments, Advances & More
Saethre-Chotzen Syndrome Overview
Learn About Saethre-Chotzen Syndrome
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. The TWIST1 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The TWIST1 protein is active in cells that give rise to bones, muscles, and other tissues in the head and face. It is also involved in the development of the limbs.
Saethre-Chotzen syndrome has an estimated prevalence of 1 in 50,000 people.
This condition 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 some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
FL - Cancer Surgery
Antonio Forte is a Plastic Surgeon practicing medicine in Jacksonville, Florida. Dr. Forte is rated as an Elite provider by MediFind in the treatment of Saethre-Chotzen Syndrome. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Saethre-Chotzen Syndrome, Acrocephalopolydactyly, Apert Syndrome, Vaginectomy, and Fasciotomy. Dr. Forte is currently accepting new patients.
Office Of Scott Bartlett, MD - Pediatric Plastic Surgery
Scott Bartlett is a Plastic Surgeon practicing medicine in Philadelphia, Pennsylvania. Dr. Bartlett is rated as an Elite provider by MediFind in the treatment of Saethre-Chotzen Syndrome. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Craniosynostosis, Pfeiffer Syndrome, Saethre-Chotzen Syndrome, Osteotomy, and Bone Graft. Dr. Bartlett is board certified in Plastic Surgery, 1987. Dr. Bartlett is currently accepting new patients.
Cassio Amaral-Raposo practices practicing medicine in Campinas, Brazil. Amaral-Raposo is rated as an Elite expert by MediFind in the treatment of Saethre-Chotzen Syndrome. They are also highly rated in 22 other conditions, according to our data. Their clinical expertise encompasses Acrocephalopolydactyly, Pfeiffer Syndrome, Apert Syndrome, Osteotomy, and Bone Graft.
Summary: Syndromic craniosynostoses (SCS) are rare genetic disorders defined by premature cranial suture fusion, resulting in abnormal craniofacial development and constrained brain growth. These conditions, including Muenke, Saethre-Chotzen, Crouzon, Apert, Pfeiffer and craniofrontonasal syndromes, are typically caused by gain- or loss-of-function variants in key regulators of suture biology such as FGFR1...
Summary: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased...
Published Date: April 01, 2020
Published By: National Institutes of Health