Definition of Achondroplasia
Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism.
Causes, incidence, and risk factors
Achondroplasia is one of a group of disorders called chondrodystrophies or osteochondrodysplasias.
The typical appearance of achondroplastic dwarfism can be seen at birth. Symptoms may include:
Signs and tests
During pregnancy, a prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant.
There is no specific treatment for achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems.
People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range. Infants who receives the abnormal gene from both parents do not often live beyond a few months.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 11/2/2009