Stuve-Wiedemann syndrome [Supplementary Concept]
A hereditary disorder characterized by multiple skeletal and craniofacial abnormalities; PULMONARY HYPERTENSION; DYSPHAGIA; respiratory distress, and hyperthermia. Most patients do not survive past infancy and those who do develop DYSAUTONOMIA. It is caused by mutations in the LEUKEMIA INHIBITORY FACTOR RECEPTOR ALPHA SUBUNIT (LIFR) gene. OMIM: 601559
Date introduced: November 13, 2010
MeSH Unique ID: C537502
Heading Mapped to:
Entry Terms:
- Stuve-Wiedemann-Schwartz-Jampel type 2 syndrome
- Schwartz Jampel type 2 syndrome
- Schwartz Jampel syndrome neonatal
- Schwartz-Jampel Syndrome, Neonatal
- Schwartz-Jampel Syndrome, Type 2