Achondroplasia

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.

Symptoms

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.

Treatment

There is no specific treatment for achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems.

Expectations (prognosis)

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.

Review

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

ADAM Medical Encyclopedia

Article written by

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability.