Stuve-Wiedemann SyndromeSymptoms, Doctors, Treatments, Advances & More
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.
Proliance Surgeons
Mark Reed is a Podiatric Surgeon and an Orthopedics provider practicing medicine in Seattle, Washington. Dr. Reed is rated as an Experienced provider by MediFind in the treatment of Stuve-Wiedemann Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Synovial Osteochondromatosis, Morton Neuroma, Tendinitis, and Freiberg's Disease. Dr. Reed is board certified in American Board Of Orthopaedic Surgery. Dr. Reed is currently accepting new patients.
Office
James Carroccio is a primary care provider, practicing in Family Medicine in North Ridgeville, Ohio. Dr. Carroccio is rated as an Experienced provider by MediFind in the treatment of Stuve-Wiedemann Syndrome. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, Hypertension, and High Cholesterol. Dr. Carroccio is currently accepting new patients.
University Orthopaedic Center
Kristen Carroll is an Orthopedics provider practicing medicine in Salt Lake City, Utah. Dr. Carroll is rated as an Advanced provider by MediFind in the treatment of Stuve-Wiedemann Syndrome. She is also highly rated in 86 other conditions, according to our data. Her clinical expertise encompasses Spastic Diplegia Infantile Type, Knock Knees, Hereditary Multiple Osteochondromas, Osteotomy, and Rhizotomy. Dr. Carroll is board certified in American Board Of Orthopaedic Surgery. Dr. Carroll is currently accepting new patients.
Published Date: April 01, 2016
Published By: National Institutes of Health