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.
University Healthcare Alliance
Ariadne Lie is a Pediatrics specialist and an Internal Medicine provider in Emeryville, California. Dr. Lie and is rated as an Experienced provider by MediFind in the treatment of Pfeiffer Syndrome. Her top areas of expertise are Autism Spectrum Disorder, Moebius Syndrome, Fetal Alcohol Syndrome (FAS), and Sickle Cell Disease.
Bay Area Esthetics Plastic Surgery Inc
Navid Pourtaheri is a Plastic Surgeon in Santa Rosa, California. Dr. Pourtaheri and is rated as an Experienced provider by MediFind in the treatment of Pfeiffer Syndrome. His top areas of expertise are Micrognathia, Goldenhar Disease, Pierre Robin Sequence, Osteotomy, and Bone Graft. Dr. Pourtaheri is currently accepting new patients.
Ari Wes is a Plastic Surgeon in Burlingame, California. Dr. Wes and is rated as an Experienced provider by MediFind in the treatment of Pfeiffer Syndrome. His top areas of expertise are Craniosynostosis, Metopic Ridge, Plagiocephaly, Osteotomy, and Bone Graft.
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