Schwartz Jampel syndrome
Other Names for this Disease
- Aberfeld syndrome
- Burton skeletal dysplasia
- Burton syndrome
- Catel-Hempel syndrome
- Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
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contractures); short stature; small "fixed" facial features; and eye abnormalities. Previously, SJS was divided into types 1 and 2. SJS type 2 (also refereed to as neonatal SJS) is now considered a distinct, more severe condition called Stuve-Wiedemann syndrome, which is caused by mutations in the LIFR gene. SJS is subdivided into types 1A and 1B, differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. People with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth. SJS is caused by mutations in the HSPG2 gene. SJS is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern. Treatment for type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as botulinum toxin (Botox), and surgery.Schwartz Jampel syndrome (SJS) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle stiffness and weakness; joint deformities that affect mobility (
Last updated: 7/20/2016
- Pearl PL & Philip S. Schwartz Jampel syndrome. National Organization of Rare Diseases. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1058/viewAbstract.
- Schwartz-Jampel syndrome. Online Mendelian Inheritance in Man. 2010; http://omim.org/entry/255800.
- Ault J. Schwartz-Jampel Syndrome. Medscape. October 09, 2014; http://emedicine.medscape.com/article/1172013-overview.
- Genetics Home Reference (GHR) contains information on Schwartz Jampel syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 Schwartz Jampel syndrome. Click on the link to view a sample search on this topic.