Multiple congenital contractures

Multiple Congenital Contractures (MCC) refers to a group of conditions characterized by the presence of two or more joint contractures in different areas of the body at birth. A joint contracture is a permanent shortening of a muscle or joint, leading to restricted movement and possible deformity. MCC is often associated with a broader spectrum of conditions known as arthrogryposis multiplex congenita (AMC), which encompasses various syndromes and diseases leading to congenital contractures.

Etiology

The causes of Multiple Congenital Contractures are diverse and can include genetic mutations, maternal illness during pregnancy, reduced amniotic fluid (Oligohydramnios), and fetal akinesia (reduced fetal movement). In many cases, the exact cause remains unknown. Genetic factors can play a significant role, with some forms of MCC being inherited in an autosomal dominant or recessive manner.

Pathophysiology

The pathogenesis of MCC involves factors that limit fetal movement during critical periods of development. Fetal movement is essential for the normal growth of muscles and joints. Without movement, these structures do not develop properly, leading to contractures. The neuromuscular system, connective tissue, and skeletal system can all be involved in the development of contractures, depending on the underlying cause of the MCC.

Clinical Presentation

Individuals with Multiple Congenital Contractures present at birth with contractures in multiple joints. These can include the hips, knees, elbows, wrists, and ankles. The severity and number of affected joints can vary widely among individuals. In some cases, MCC is part of a syndrome that may also involve other organ systems, leading to additional symptoms beyond the contractures.

Diagnosis

Diagnosis of MCC is primarily based on clinical examination and the history of the pregnancy. Ultrasound imaging during pregnancy can sometimes detect contractures before birth. After birth, further diagnostic tests such as genetic testing, MRI, and neurological examinations may be conducted to determine the underlying cause and to rule out other conditions.

Treatment

Treatment for Multiple Congenital Contractures is multidisciplinary and may involve physical therapy, occupational therapy, orthopedic surgery, and the use of orthotic devices to improve joint function and mobility. The goal of treatment is to maximize the individual's ability to perform daily activities and improve quality of life. Early intervention is crucial for achieving the best outcomes.

Prognosis

The prognosis for individuals with MCC varies depending on the severity of the contractures, the underlying cause, and the presence of other associated conditions. With early and appropriate management, many individuals can lead active and fulfilling lives.

See Also

• Arthrogryposis Multiplex Congenita
• Joint Contracture
• Physical Therapy
• Occupational Therapy

Resources

Latest articles - Multiple congenital contractures

• Most recent articles
• Ongoing trials

Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Multiple congenital contractures for any updates.

‎