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.
St. Christopher's Pediatric Associates Radiology - E. Erie Avenue
Sarah Contrucci is a Radiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Stuve-Wiedemann Syndrome. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Contrucci is board certified in American Board Of Radiology.
ETSU Physicians & Associates- Pediatrics
Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Stuve-Wiedemann Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.
Blue Ridge Radiology, P.C.
Jonathan Mai is a Radiologist practicing medicine in Bristol, Tennessee. Dr. Mai is rated as an Experienced provider by MediFind in the treatment of Stuve-Wiedemann Syndrome. His clinical expertise encompasses Pleurisy, Pleural Effusion, Lung Nodules, ALK-Positive Non-Small Cell Lung Cancer, and Bone Marrow Aspiration. Dr. Mai is board certified in American Board Of Radiology.
Published Date: April 01, 2016
Published By: National Institutes of Health