Diastrophic dysplasia

Diastrophic dysplasia is a rare autosomal recessive disorder that affects the development of cartilage and bone. It is characterized by dwarfism, spinal deformities, and abnormalities in the hands and feet.

Genetics

Diastrophic dysplasia is caused by mutations in the SLC26A2 gene, which provides instructions for making a protein involved in the development of cartilage and bone. The condition follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

Clinical Features

Individuals with diastrophic dysplasia typically present with short stature due to shortened limbs, scoliosis or other spinal deformities, and joint contractures. The hands often exhibit a characteristic "hitchhiker thumb" due to a specific type of thumb deformity. Cleft palate and ear abnormalities, such as cystic ear swelling, are also common.

Diagnosis

Diagnosis of diastrophic dysplasia is based on clinical evaluation, characteristic radiological findings, and genetic testing to identify mutations in the SLC26A2 gene. Prenatal diagnosis is possible through amniocentesis or chorionic villus sampling if there is a known risk of the disorder.

Management

There is no cure for diastrophic dysplasia, but treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, orthopedic surgery to correct skeletal deformities, and occupational therapy to assist with daily activities. Regular monitoring by a multidisciplinary team is essential to address the various health issues that may arise.

Prognosis

The prognosis for individuals with diastrophic dysplasia varies. While the condition is associated with significant physical challenges, many individuals lead fulfilling lives with appropriate medical care and support. Life expectancy is generally normal, although complications related to spinal deformities and respiratory issues can occur.

Related Pages

• Dwarfism
• Scoliosis
• Genetic disorders
• Autosomal recessive inheritance

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  Diastrophic dysplasia