Pseudoachondroplastic dysplasia 1

Pseudoachondroplastic Dysplasia 1 (PSACH), also known as Pseudoachondroplasia, is a rare genetic disorder characterized by short stature, abnormal bone growth, and joint abnormalities. This condition falls under the broader category of skeletal dysplasias, which affect the development of bones and cartilage. PSACH is caused by mutations in the COMP gene, which encodes for the cartilage oligomeric matrix protein. This protein is essential for the normal development and maintenance of cartilage. The mutations lead to the production of abnormal COMP protein, which disrupts the structure and function of cartilage, affecting bone growth and leading to the features of pseudoachondroplasia.

Symptoms and Diagnosis

Individuals with PSACH typically present with a normal length at birth but develop noticeable short stature during early childhood. Other common features include limb deformities (such as bowed legs or knock knees), joint laxity, early-onset osteoarthritis, and a waddling gait. Despite these physical manifestations, intelligence and life expectancy are usually normal.

Diagnosis of PSACH is primarily based on clinical evaluation, family history, and radiographic findings. Genetic testing for mutations in the COMP gene can confirm the diagnosis.

Treatment and Management

There is no cure for PSACH, and treatment focuses on managing symptoms and improving quality of life. Management strategies may include physical therapy, orthopedic interventions (such as surgery to correct limb deformities), and pain management for osteoarthritis. Regular monitoring by a multidisciplinary team of healthcare providers, including orthopedists, geneticists, and physical therapists, is essential for individuals with PSACH.

Genetics

PSACH is inherited in an autosomal dominant manner, meaning that only one copy of the mutated COMP gene is necessary for an individual to be affected. There is a 50% chance of passing the condition on to offspring if one parent is affected.

Epidemiology

Pseudoachondroplasia is a rare condition, though its exact prevalence is unknown. It affects males and females equally and has been reported in individuals of various ethnic backgrounds.

See Also

• Skeletal dysplasia
• Osteoarthritis
• Genetic disorder

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