Pfeiffer Syndrome Overview
Learn About Pfeiffer Syndrome
Pfeiffer syndrome is a genetic disorder 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. Pfeiffer syndrome also affects bones in the hands and feet.
Pfeiffer syndrome is most commonly caused by mutations in the FGFR2 gene. Mutations in the FGFR1 gene cause a small percentage of cases of type 1 Pfeiffer syndrome. Mutations in this gene have not been associated with type 2 or 3.
Pfeiffer syndrome affects about 1 in 100,000 individuals.
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.
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 Pfeiffer 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 Pfeiffer 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 Pfeiffer 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: January 01, 2017
Published By: National Institutes of Health