Learn About Multiple Pterygium Syndrome
Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. The CHRNG gene provides instructions for making the gamma (γ) protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and is critical for signaling between nerve and muscle cells. Signaling between these cells is necessary for movement. The AChR protein consists of five subunits. The γ subunit is found only in the fetal AChR protein. At about the thirty-third week of pregnancy, the γ subunit is replaced by another subunit to form adult AChR protein. The replacement of fetal AChR by adult AChR is the reason most people with multiple pterygium syndrome, Escobar type do not have problems with muscle movement after birth.
The prevalence of multiple pterygium syndrome is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Gianina Ravenscroft practices in Nedlands, Australia. Ravenscroft is rated as an Elite expert by MediFind in the treatment of Multiple Pterygium Syndrome. Their top areas of expertise are Fetal Akinesia Sequence, Congenital Contractures, Arthrogryposis Multiplex Congenita, and Multiple Pterygium Syndrome.
Proliance ProOrtho Orthopedics Sports, Joints & Spine
James W. Pritchett, MD, is a board-certified, award-winning orthopedic physician and surgeon specializing in hip, knee, and shoulder resurfacing, joint replacement, and arthroscopic surgery. He has a special interest in implantology, the study and development of joint prostheses.Dr. Pritchett’s surgical practice has taught him that technical skill is the mastery of the complex. It takes years and a lot of listening and experience to understand the nuances of joint resurfacing and replacement surgery. He looks carefully at his outcomes and publishes his results in peer-reviewed journals. He understands that survivorship of a patient and implant is not synonym for synonymous with true wellness. Resumption of a completely autonomous lifestyle and a return to all activities is the goal.He is the chief of orthopedic surgery at Swedish Orthopedic Institute, the tenth largest orthopedic hospital in the country. Several of Dr. Pritchett’s design concepts have been incorporated into currently available joint implants, and he has been invited to speak about implantology at more than 85 scientific meetings. He is a highly regarded authority in orthopedics, having published more than 100 peer-reviewed manuscripts. He was also named one of Puget Sound’s best doctors and earned an award for outstanding patient care from Swedish Hospital. Dr. Pritchett is rated as an Advanced provider by MediFind in the treatment of Multiple Pterygium Syndrome. His top areas of expertise are Osteoarthritis, Osteolysis Syndrome Recessive, Multiple Pterygium Syndrome X Linked, Hip Resurfacing, and Hip Replacement.
Loyola University Medical Center
Felicity Fishman is a Hand Surgeon in Maywood, Illinois. Dr. Fishman is rated as an Advanced provider by MediFind in the treatment of Multiple Pterygium Syndrome. Her top areas of expertise are Syndactyly Type 2, Polydactyly, Syndactyly Type 1, and Syndactyly. Dr. Fishman is currently accepting new patients.
Published Date: November 01, 2011
Published By: National Institutes of Health