Pseudoachondroplasia

Pseudoachondroplasia

Pseudoachondroplasia (pronounced: soo-doh-ah-kon-droh-play-zhuh) is a rare genetic disorder that affects the development of the bones and cartilage.

Etymology

The term "Pseudoachondroplasia" is derived from the Greek words "pseudo" meaning false, "a" meaning without, "chondro" meaning cartilage, and "plasia" meaning formation. Thus, the term literally translates to "false lack of cartilage formation".

Definition

Pseudoachondroplasia is a type of short limb dwarfism that is characterized by normal facial features and intelligence, but with disproportionate short stature. This is primarily due to abnormalities in the growth of the cartilage and bones.

Symptoms

The symptoms of pseudoachondroplasia usually become apparent in early childhood, typically around the age of 2 when a child's growth rate slows down. The most common symptoms include:

• Disproportionate short stature
• Limited range of motion in the joints
• Abnormalities in the spine, such as scoliosis or kyphosis
• Early-onset osteoarthritis

Causes

Pseudoachondroplasia is caused by mutations in the COMP gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the COMP gene disrupt the structure and stability of cartilage, which impairs bone development and leads to the features of pseudoachondroplasia.

Diagnosis

Diagnosis of pseudoachondroplasia is usually based on a physical examination and the characteristic features of the condition. Genetic testing can confirm a diagnosis by identifying a mutation in the COMP gene.

Treatment

There is currently no cure for pseudoachondroplasia. Treatment is focused on managing the symptoms and may include physical therapy, pain management, and in some cases, surgery to correct bone abnormalities.

Related Terms

• Dwarfism
• Cartilage
• Osteoarthritis
• Genetic disorder
• Mutation

External links

• Medical encyclopedia article on Pseudoachondroplasia
• Wikipedia's article - Pseudoachondroplasia

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