Lethal congenital contracture syndrome

Lethal Congenital Contracture Syndrome (LCCS) is a rare genetic disorder characterized by multiple joint contractures at birth, leading to severe disability or death. The syndrome is part of a larger group of disorders known as arthrogryposis.

Etiology

LCCS is caused by mutations in the GLE1 gene. This gene provides instructions for making a protein that is involved in the processing of RNA, a molecule that plays a key role in protein production. Mutations in the GLE1 gene disrupt the normal function of cells, leading to the characteristic features of LCCS.

Clinical Features

Individuals with LCCS are born with multiple joint contractures, which limit movement and can result in a fixed position of the affected joints. Other features of the syndrome can include micrognathia (a small jaw), lung hypoplasia (underdeveloped lungs), and intrauterine growth restriction.

Diagnosis

Diagnosis of LCCS is based on clinical features and confirmed by genetic testing. Prenatal diagnosis is possible if there is a known mutation in the family.

Treatment

There is currently no cure for LCCS. Treatment is supportive and focuses on managing the symptoms. This can include physical therapy to improve joint mobility and respiratory therapy for lung problems.

Prognosis

The prognosis for individuals with LCCS is poor. Most affected individuals die in infancy due to respiratory failure. However, with appropriate supportive care, some individuals with LCCS can survive into adulthood.

See Also

• Arthrogryposis
• Genetic disorder
• RNA
• Physical therapy
• Respiratory therapy

Lethal congenital contracture syndrome Resources
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