Learn About Stuve-Wiedemann Syndrome
Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia).
Stüve-Wiedemann syndrome is usually caused by mutations in the LIFR gene. This gene provides instructions for making a protein called leukemia inhibitory factor receptor (LIFR). Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function.
Stüve-Wiedemann syndrome is a rare condition that has been found worldwide. Its prevalence 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.
Summit Orthopedics
Tracy Rupke, M.D., is an orthopedic surgeon at Summit Orthopedics specializing in foot and ankle care, serving Minneapolis/St. Paul metro area patients. She has a special interest in sports medicine, orthopedic trauma, and reconstructive surgery of the foot and ankle. She did a sports medicine fellowship at the University of Ottawa in Canada, and a foot and ankle surgery fellowship at the University of Washington, Seattle. “I am dedicated to providing the best care possible for my patients,” she says. “I love running and understand every patient’s desire to return to their own life and activities.” She provides medical coverage for the U.S. Waterski team and volunteered surgical skills to underserved communities through One World Surgery. Dr. Rupke is rated as an Experienced provider by MediFind in the treatment of Stuve-Wiedemann Syndrome. Her top areas of expertise are Synovial Osteochondromatosis, Achilles Tendon Rupture, Osgood-Schlatter Disease, Osteochondritis Dissecans, 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 Stuve-Wiedemann Syndrome. Her top areas of expertise are Syndactyly Type 2, Polydactyly, Syndactyly Type 1, and Syndactyly. Dr. Fishman is currently accepting new patients.
Mark Miller is a Pediatric Orthopedics specialist and an Orthopedics provider in Saint Louis, Missouri. Dr. Miller is rated as an Advanced provider by MediFind in the treatment of Stuve-Wiedemann Syndrome. His top areas of expertise are Claw Foot, Clubfoot, Congenital Femoral Deficiency, Osteotomy, and Tissue Biopsy. Dr. Miller is currently accepting new patients.
Published Date: April 01, 2016
Published By: National Institutes of Health