MeSH Browser

MeSH Supplementary: Stuve-Wiedemann syndrome
Unique ID: C537502
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537502
Entry Term(s): Schwartz Jampel syndrome neonatal; Schwartz Jampel type 2 syndrome; Schwartz-Jampel Syndrome, Neonatal; Schwartz-Jampel Syndrome, Type 2; Stuve-Wiedemann-Schwartz-Jampel type 2 syndrome
Registry Number: 0
Heading Mapped to: *Exostoses, Multiple Hereditary; *Osteochondrodysplasias
Frequency: 22
Note: 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 of Entry: 2010/11/13
Revision Date: 2016/09/29

Stuve-Wiedemann syndrome MeSH Supplementary Concept Data 2024