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Stuve-Wiedemann syndrome

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
Also Known As:
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
Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Retinal Perforations

Experts

1. Atay, Zeynep: 1 article (08/2015)
2. Bereket, Abdullah: 1 article (08/2015)
3. Firat, Irfan: 1 article (08/2015)
4. Guran, Omer: 1 article (08/2015)
5. Guran, Tulay: 1 article (08/2015)
6. Haliloglu, Belma: 1 article (08/2015)
7. Kipoglu, Osman: 1 article (08/2015)
8. Paketci, Cem: 1 article (08/2015)
9. Turan, Serap: 1 article (08/2015)
10. Palejwala, Neal V: 1 article (01/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Stuve-Wiedemann syndrome:
1. OSM-LIF ReceptorsIBA
2. Anesthetics (Anesthetic Agents)IBA