Disease Information for Schwartz-Jampel syndrome: Definition

Schwartz Jampel Syndrome; Chondrodystrophic Myotonia

Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies ; SJA Syndrome; SJS; Schwartz-Jampel-Aberfeld Syndrome; Schwartz-Jampel Syndrome, Type 2;

Schwartz-Jampel Syndrome, Types 1A and 1B;

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; 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;

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A syndrome of short stature; generalized myotonia with contractures of major joints, microstomia, and muscle rigidity; ocular anomalies, mainly blepharophimosis; and characteristic facies marked by pinched or frozen smile puckered lips; Some degree of mental retardation occurs in about 25% of patients; The affected children usually appear normal at birth and the symptoms become recognizable at 1 to 3 years of age; Malignant hyperthermia is a potentially lethal hazard during anesthesia------[jablonski/NIH anomalies archive]---------

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