Schwartz Jampel Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Schwartz Jampel Syndrome is not the name you expected.
Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision. The range and severity of symptoms may vary from case to case. Two types of the disorder have been identified that may be differentiated by age of onset and other factors. SJS type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood. SJS type 2, a more rare form of the disorder, is typically recognized at birth (congenital). Most researchers now believe that SJS type 2 is actually the same disorder as Stuve-Wiedemann syndrome and not a form of SJS. (For more information on Stuve-Wiedemann syndrome see the Related Disorders section of this report.)
SJS is thought to be inherited as an autosomal recessive trait. However, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern.
Genetic and Rare Diseases (GARD) Information Center
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International Children's Anophthalmia Network (ICAN)
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Malignant Hyperthermia Association of the United States
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NIH/National Eye Institute
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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National Association for Parents of Children with Visual Impairments (NAPVI)
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 10/11/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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