Multiple Pterygium SyndromeSymptoms, Doctors, Treatments, Advances & More
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.
Proliance Surgeons
I want to provide compassionate, thorough, and effective care for all problems involving the foot & ankle. I am 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 is rated as an Advanced provider by MediFind in the treatment of Multiple Pterygium Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Poland Syndrome, Popliteal Pterygium Syndrome, Multiple Pterygium Syndrome, and Amniotic Band Syndrome. Dr. Yi is board certified in American Board Of Orthopaedic Surgery. Dr. Yi is currently accepting new patients.
Gianina Ravenscroft practices practicing medicine in Nedlands, Australia. Ravenscroft is rated as an Elite expert by MediFind in the treatment of Multiple Pterygium Syndrome. They are also highly rated in 31 other conditions, according to our data. Their clinical expertise encompasses Fetal Akinesia Sequence, Congenital Contractures, Arthrogryposis Multiplex Congenita, and Multiple Pterygium Syndrome.
St. Christopher's Hospital For Children
Amer Samdani is a Neurosurgery provider practicing medicine in Philadelphia, Pennsylvania. Dr. Samdani is rated as a Distinguished provider by MediFind in the treatment of Multiple Pterygium Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Adolescent Idiopathic Scoliosis, Kyphosis, Spinal Fusion, and Osteotomy. Dr. Samdani is board certified in American Board Of Neurological Surgery.
Published Date: November 01, 2011
Published By: National Institutes of Health