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Stuve-Wiedemann syndrome


Other Names for this Disease
  • Neonatal Schwartz-Jampel syndrome type 2
  • Schwartz-Jampel syndrome neonatal
  • Schwartz-Jampel syndrome type 2
  • SJS2
  • Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
More Names
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Overview


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 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.[1][2] 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.[1][3] Treatment is symptomatic and supportive.[1] 
Last updated: 4/13/2011

References

  1. Stuve-Wiedemann syndrome. Orphanet. 2006; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3206. Accessed 4/13/2011.
  2. Stuve-Wiedemann Syndrome. Online Mendelian Inheritance in Man (OMIM). 2009; http://www.omim.org/entry/601559?search=601559. Accessed 4/13/2011.
  3. LIFR. Genetics Home Reference (GHR). 2011; http://ghr.nlm.nih.gov/gene/LIFR. Accessed 4/13/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Stuve-Wiedemann syndrome. Click on the link to view a sample search on this topic.