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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies
- Schwartz-Jampel-Aberfeld Syndrome
- SJA Syndrome
- Chondrodystrophic Myotonia
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. Schwartz-Jampel syndrome type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood. Schwartz-Jampel syndrome 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 Schwartz-Jampel syndrome. (For more information on Stuve-Wiedemann syndrome see the Related Disorders section of this report.)
Schwartz-Jampel syndrome is thought to be inherited as an autosomal recessive trait. However, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern.
Malignant Hyperthermia Association of the United States
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International Children's Anophthalmia Network (ICAN)
c/o Center for Devel Medicine & Genetics
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Genetics Levy 2 West
Philadelphia, PA 19141
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02272-0317
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
Albert Einstein Medical Center
5501 Old York Rd
Genetics Levy 2 West
Philadelphia, PA 19141
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 3/31/2008
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