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Other Names for this Disease
- Neonatal Schwartz-Jampel syndrome type 2
- Schwartz-Jampel syndrome neonatal
- Schwartz-Jampel syndrome type 2
- Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
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autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR) on chromosome 5p13. The majority of patients die during the neonatal period. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. Treatment is symptomatic and supportive.Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temperature). The condition is transmitted in an
Last updated: 4/13/2011
- Stuve-Wiedemann syndrome. Orphanet. 2006; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3206. Accessed 4/13/2011.
- Stuve-Wiedemann Syndrome. Online Mendelian Inheritance in Man (OMIM). 2009; http://www.omim.org/entry/601559?search=601559. Accessed 4/13/2011.
- LIFR. Genetics Home Reference (GHR). 2011; http://ghr.nlm.nih.gov/gene/LIFR. Accessed 4/13/2011.
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