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Diseases

Genetic and Rare Diseases Information Center (GARD)

Stuve-Wiedemann syndrome


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

Stuve-Wiedemann syndrome (STWS) is a congenital skeletal (bone) dysplasia characterized by small stature, bowing of the long bones, and other skeletal anomalies. Patients often present with serious complications such as breathing and feeding difficulties and episodes of 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). STWS is often fatal during the neonatal period due to respiratory distress or hyperthermic episodes. [1][2][3] However, some patients do survive to adolescence and beyond.[1][2] Survivors may develop spinal deformities, spontaneous fractures, bowing of the lower limbs, prominent joints, and dysautonomia symptoms (including temperature instability).[1][3] Treatment is mainly symptomatic and should include efforts to prevent choking, physical therapy and/or surgery to address bone abnormalities, efforts to prevent vision loss, and treatment for osteopenia or osteoporosis. Caution should be exercised when using anesthesia due to the predisposition to hyperthermia.[1] 
Last updated: 5/4/2016

References

  1. Jorcyl, Cheryl, et al.. Stuve-Wiedemann syndrome. Orphanet. March, 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3206. Accessed 5/4/2016.
  2. Stuve-Wiedemann Syndrome. Online Mendelian Inheritance in Man (OMIM). october, 2015; http://www.omim.org/entry/601559?search=601559. Accessed 5/4/2016.
  3. Stuve-Wiedemann Syndrome. Genetics Home Reference (GHR). April, 2016; https://ghr.nlm.nih.gov/condition/stuve-wiedemann-syndrome. Accessed 5/4/2016.
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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. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • STWS
  • Schwartz-Jampel syndrome type 2
  • SJS2
  • Schwartz-Jampel syndrome neonatal
  • Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.