Learn About Schwartz-Jampel Syndrome

What is the definition of Schwartz-Jampel Syndrome?

Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely.

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What are the causes of Schwartz-Jampel Syndrome?

Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, it is found in part of the extracellular matrix called the basement membrane, which is a thin, sheet-like structure that separates and supports cells in many tissues. Perlecan is also found in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.

How prevalent is Schwartz-Jampel Syndrome?

Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases have been reported in the medical literature.

Is Schwartz-Jampel Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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What are the latest Schwartz-Jampel Syndrome Clinical Trials?
Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement
Summary: RD-DATA is a retrospective and prospective data collection, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc..~This approach has been individuated in order to corroborate and integrate data from dif...
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Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Summary: The goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. Together with the investigators collaborators the investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The long-term goal of researchers involved in this study is to find mechanisms to slow down bone resorption...
Who are the sources who wrote this article ?

Published Date: April 01, 2016Published By: National Institutes of Health

What are the Latest Advances for Schwartz-Jampel Syndrome?
Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.
Summary: Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.
Severe Cervical Kyphosis and Spondyloptosis with Myelopathy in Larsen Syndrome: A Report of 2 Cases.
Summary: Severe Cervical Kyphosis and Spondyloptosis with Myelopathy in Larsen Syndrome: A Report of 2 Cases.
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Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.
Summary: Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.