Pseudoachondroplasia

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Pseudoachondroplasia
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Short stature, joint pain, limb deformities
Complications	N/A
Onset	Early childhood
Duration	Lifelong
Types	N/A
Causes	Mutations in the COMP gene
Risks	Osteoarthritis, joint problems
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Achondroplasia, Multiple epiphyseal dysplasia
Prevention	N/A
Treatment	Symptomatic management, physical therapy
Medication	N/A
Prognosis	Normal life expectancy with management
Frequency	1 in 30,000 individuals
Deaths	N/A

Pseudoachondroplasia

Pseudoachondroplasia is a rare, inherited disorder that affects bone growth and results in short stature. This condition is a form of short stature that is not evident at birth but becomes apparent in early childhood. The average adult height for individuals with pseudoachondroplasia is about 120 centimeters (4 feet).

Signs and Symptoms

People with pseudoachondroplasia have normal facial features, head size, and intelligence. This condition does not affect the development of the skull or the brain. However, individuals with pseudoachondroplasia have short arms and legs and a narrow chest with prominent shoulder blades. Other skeletal signs and symptoms include a limited range of motion in the elbows and hips, and an inward- and downward-turning foot (called clubfoot).

Causes

Pseudoachondroplasia is caused by mutations in the COMP gene. This gene provides instructions for making a protein that is found in the spaces between cells where it interacts with other proteins to form the extracellular matrix. This matrix lends strength and flexibility to tissues throughout the body.

Diagnosis

The diagnosis of pseudoachondroplasia is typically made based on a thorough clinical evaluation, a detailed patient history, and specialized tests such as advanced imaging techniques.

Treatment

There is currently no cure for pseudoachondroplasia. Treatment is symptomatic and supportive. Physical therapy may be beneficial for some affected individuals. Additional treatment is symptomatic and supportive.

See Also

• Achondroplasia
• Dwarfism
• Genetic disorder

References

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