Symptoms:

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

Signs and tests:

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.

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.

Complications:

• Clubbed feet
• Fluid buildup in the brain (hydrocephalus)

Calling your health care provider:

If there is a family history of achondroplasia and you plan to have children, you may find it helpful to speak to your health care provider.

Prevention:

Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.