Stuve-Wiedemann Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Stuve-Wiedemann Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Stuve-Wiedemann syndrome is rare skeletal disorder present at birth (congenital). It is characterized by short stature, bowing of the long bones of the arms and legs (campomelia), and fingers or toes that are permanently flexed (camptodactyly) outward away from the thumb (ulnar deviation). Affected infants may develop life-threatening complications such as episodes where there is a sudden rise in body temperature (hyperthermia) or respiratory distress. Stuve-Wiedemann syndrome is inherited as an autosomal recessive trait.

Some researchers believe that Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome (SJS) type II are the same disorder. SJS was previously believed to be the newborn (neonatal) form of SJS. However, the clinical and radiographic pictures of Stuve-Wiedemann and SJS type II are nearly identical leading many researchers to believe the two disorders are a single entity. Radiographic pictures are records of internal structures of the body made from the use of x-rays or gamma rays.

In the past, Stuve-Wiedemann syndrome was thought to be a lethal condition in all cases. Today, there are reports in the literature describing patients who survive.

Resources

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

related physicians

related services

Bon Secours International| Sisters of Bon Secours USA| Bon Secours Health System

This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Privacy Policy. How this information was developed to help you make better health decisions.