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.
Penn Plastic Surgery Perelman
Scott Bartlett is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Bartlett is rated as an Elite provider by MediFind in the treatment of Saethre-Chotzen Syndrome. His top areas of expertise are Craniosynostosis, Pfeiffer Syndrome, Saethre-Chotzen Syndrome, Osteotomy, and Bone Graft. Dr. Bartlett is currently accepting new patients.
Cassio Amaral-Raposo practices in Campinas, Brazil. Amaral-Raposo is rated as an Elite expert by MediFind in the treatment of Saethre-Chotzen Syndrome. Their top areas of expertise are Acromicric Dysplasia, Syndactyly, Pfeiffer Syndrome, Osteotomy, and Bone Graft.
Jesse Taylor is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Taylor is rated as an Elite provider by MediFind in the treatment of Saethre-Chotzen Syndrome. His top areas of expertise are Craniosynostosis, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, Osteotomy, and Endoscopy.
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