Pseudoachondroplasia is a rare genetic disorder that affects the growth of bones and cartilage. It is characterized by short-limbed dwarfism, joint laxity, and a waddling gait. Other features may include a short neck, a prominent forehead, and a curved spine. Affected individuals may also have skeletal malformations, such as bowed legs, and may experience joint pain and stiffness.

The most common symptoms of Pseudoachondroplasia include short stature, joint pain, and skeletal deformities. Other symptoms may include bowed legs, a waddling gait, a curved spine, and a large head. Other signs and symptoms may include a short neck, a protruding abdomen, and a flattened face.

Pseudoachondroplasia is caused by a mutation in the COMP gene, which is responsible for the production of cartilage-forming proteins. This mutation results in the abnormal formation of cartilage, leading to the characteristic short-limbed dwarfism seen in people with pseudoachondroplasia.

There is no cure for Pseudoachondroplasia, but treatments can help manage the symptoms. These treatments may include physical therapy, occupational therapy, braces, and surgery. Physical therapy can help improve strength, balance, and coordination. Occupational therapy can help with activities of daily living, such as dressing and bathing. Braces can help support the joints and reduce pain. Surgery may be necessary to correct joint deformities or to help with mobility.

The primary risk factor for Pseudoachondroplasia is a genetic mutation in the COMP gene. This gene mutation is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent in order to develop the condition.

There is no cure for pseudoachondroplasia, but medications can be used to help manage the symptoms. These medications may include pain relievers, muscle relaxants, and physical therapy. Surgery may also be recommended to correct any skeletal deformities.