Schwartz-Jampel syndrome type II

Schwartz-Jampel syndrome type II (SJS II) (Schwartz-Jampel syndrome type II) is a hereditary disorder that is divided into two types. These subtypes are often referred to as SJS type I and SJS type II. The first cases of SJS were described in 1962 by Oscar Schwartz and Robert S. Jampel. As mentioned above, this is a genetic disorder inherited in an autosomal recessive pattern.

Diagnosis:
Unlike type I, in this type the causative gene has been specifically identified. Patients with SJS type II unfortunately have a poorer prognosis, and most do not survive into adulthood. Diagnosis is very difficult; however, genetic testing is used. The condition is usually diagnosed during the first year of life.

Treatment:
Treatment in this case is symptomatic only, meaning that the goal is to reduce symptoms. Exercises and rehabilitation are necessary to improve muscle activity, reduce muscle hypotonia, and relieve contractures.

• Muscle hypotonia, joint contractures
• Muscle weakness
• Minor morphological skeletal abnormalities (developmental disorders of the skeleton)
• Patients require psychosocial support
• Short stature
• Severe breathing difficulties
• Feeding problems
• Frequent episodes of hyperthermia (elevated body temperature)
• High neonatal mortality rate