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 Surgeons
Anthony Yi, MD, is an orthopedic surgeon with additional advanced training in foot and ankle surgery. He provides compassionate, thorough, and effective care for all problems involving the foot & ankle. He is committed to providing you with treatment that leads to a complete recovery and life without pain or restrictions through the most effective, safe, high quality, innovative, and state-of-art methods including minimally invasive surgery. Dr. Yi provides both nonoperative and operative treatment strategies for the whole gamut of foot & ankle problems. He also offers numerous less invasive and minimally invasive surgical (MIS) techniques that can lead to faster recovery, lower infection risk, and much smaller scars while still having the same (or better) results compared to more traditional, more invasive techniques.Dr. Yi grew up in Tacoma, WA, where he attended high school at Bellarmine Preparatory School. He graduated as valedictorian and received the National Football Foundation and College Hall of Fame Scholar-Athlete Award. He completed his undergraduate studies at the University of Southern California (USC) where he earned degrees in Biological Sciences and Business Administration and achieved summa cum laude. He then earned his medical degree at USC Keck School of Medicine where he was awarded a year of research funding through the Dean’s Research Scholar program and made significant contributions towards the advancement of orthopedic surgery by authoring numerous research publications. Dr. Yi completed his general orthopedic surgery training at the prestigious University of Washington and Harborview Medical Center where he served as the administrative chief resident in addition to honing his surgical skills and clinical acumen under world-renowned leaders in orthopedic surgery. He then selected for additional training at Harvard Brigham & Women’s Hospital, where he honed a diverse set of Foot & Ankle surgical skills under the mentorship of leaders in the field. He is well-trained in procedures ranging from novel minimally invasive techniques to major reconstructive procedures such as total ankle arthroplasty and deformity correction. As Pacific Northwest natives, Dr. Yi and his wife are excited to return to the community in which they cherished their most formative years. Outside of work, he enjoys skiing, cooking, and cycling. Dr. Yi is rated as an Advanced provider by MediFind in the treatment of Multiple Pterygium Syndrome. His top areas of expertise are Popliteal Pterygium Syndrome, Amniotic Band Syndrome, Multiple Pterygium Syndrome X Linked, and Poland Syndrome.
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, Syndactyly, Syndactyly Type 1, and Proximal Symphalangism. Dr. Fishman is currently accepting new patients.
Published Date: November 01, 2011
Published By: National Institutes of Health