Schwartz-Jampel syndrome

Schwartz-Jampel syndrome is a rare, genetic neuromuscular condition. It is marked by permanent muscle stiffness (myotonia) and a mask-like facial appearance. The facial features often include tight eyelids (blepharospasm), narrow openings between the eyelids, a small mouth with pursed lips, and a puckered chin. In addition to these facial characteristics, the syndrome is also associated with skeletal abnormalities. These can include short stature, a protruding chest (pectus carinatum), abnormal curvature of the spine (kyphoscoliosis), bowing of the long bones, and various hip and growth plate irregularities. This combination of muscle and bone features distinguishes the condition.

People with Schwartz-Jampel syndrome often experience constant muscle stiffness due to permanent myotonia. They have a characteristic mask-like facial appearance with features such as tight eyelids, narrow eye openings, a small mouth, and a puckered chin. Additionally, skeletal differences like short stature and chest and spine abnormalities may be seen.

Schwartz-Jampel syndrome is a genetic condition. It is caused by inherited changes that affect muscle function and bone development. Information about specific gene mutations is not provided in the available sources.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.