Achondroplasia: What Is It?

Description

Achondroplasia is a genetic disorder that leads to abnormal bone and cartilage growth. It is the most common form of skeletal dysplasia.

Classification

• Type 1 - classic form
• Type 2 - lethal form
• Type 3 - hypochondroplasia

Symptoms

Symptoms may include short limbs, a large head and small trunk, as well as shortening of the thigh bone.

Causes

Achondroplasia is caused by a mutation in the fibroblast growth factor receptor gene.

Diagnosis

Diagnosis is based on clinical signs and genetic testing.

Treatment

Treatment is aimed at symptomatic support and may include surgical correction of deformities and growth hormone therapy.

Prevention

Since achondroplasia is a genetic disorder, prevention involves genetic counseling.

Physician

A geneticist may be the treating physician for patients with achondroplasia.