The typical appearance of achondroplastic dwarfism can be seen at birth. Symptoms may include:

• Abnormal hand appearance with persistent space between the long and ring fingers
• Bowed legs
• Decreased muscle tone
• Disproportionately large head-to-body size difference
• Prominent forehead (frontal bossing)
• Shortened arms and legs (especially the upper arm and thigh)
• Short stature (significantly below the average height for a person of the same age and sex)
• Spinal stenosis
• Spine curvatures called kyphosis and lordosis

During pregnancy, a prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant.

Examination of the infant after birth shows increased front-to-back head size. There may be signs of hydrocephalus ("water on the brain").

X-rays of the long bones can reveal achondroplasia in the newborn.

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Achondroplasia Overview

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Achondroplasia Treatment

Review Date: 11/02/2009
Reviewed By: 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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)