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Schwartz Jampel Syndrome

Abstract

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NORD is very grateful to Phillip L. Pearl, MD, Division Chief, Child Neurology, Children's National Medical Center; Professor of Pediatrics and Neurology, The George Washington University School of Medicine, for assistance in the preparation of this report.

Synonyms of Schwartz Jampel Syndrome

  • chondrodystrophic myotonia
  • myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies
  • Schwartz-Jampel-Aberfeld syndrome
  • SJA syndrome
  • SJS

Disorder Subdivisions

  • Schwartz-Jampel syndrome, type 2
  • Schwartz-Jampel syndrome, types 1A and 1B

General Discussion

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.

Organizations related to Schwartz Jampel Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., visual handicaps, short stature, risk for malignant hyperthermia, etc.].)

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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