Pseudoachondroplastic dysplasia

Pseudoachondroplastic dysplasia (PSACH) is a rare genetic disorder characterized by short stature, unique facial features, and skeletal abnormalities. It is caused by mutations in the COMP gene, which encodes the cartilage oligomeric matrix protein. This protein is essential for the normal development and maintenance of cartilage. The disorder is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is necessary to cause the disorder.

Symptoms and Characteristics

Individuals with pseudoachondroplastic dysplasia typically present with a normal length at birth but develop noticeable growth deficiencies by the age of 2-3 years. The growth deficiency primarily affects the limbs, while the trunk is usually of normal size. Other common features include:

• Short stature
• Abnormalities in the development of the long bones and spine
• Joint laxity leading to early-onset osteoarthritis
• Unique facial features, though less pronounced than in other skeletal dysplasias
• Bowed legs or knock knees
• Difficulty with joint movement and an increased risk of joint dislocation

Diagnosis

Diagnosis of pseudoachondroplastic dysplasia is primarily based on clinical examination and the characteristic findings on X-rays. Genetic testing can confirm a diagnosis by identifying a mutation in the COMP gene.

Treatment

There is no cure for pseudoachondroplastic dysplasia, and treatment focuses on managing symptoms and improving quality of life. Treatment options may include:

• Physical therapy to strengthen muscles and improve joint function
• Orthopedic interventions, such as surgery, to correct bone deformities and improve mobility
• Pain management strategies for those with joint pain and osteoarthritis
• Regular monitoring of growth and development

Prognosis

The prognosis for individuals with pseudoachondroplastic dysplasia varies. While the condition does not typically affect cognitive development or life expectancy, it can significantly impact physical health and quality of life. Early intervention and supportive care can help manage symptoms and improve outcomes.

See Also

• Achondroplasia
• Skeletal dysplasia
• Genetic disorder
• Osteoarthritis

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