Achondroplasia

Typical appearance of achondroplastic dwarfism is apparent at birth:

• Short stature
• Short limbs (upper arm and thigh)
• Skeletal (limb) abnormalities
• Abnormal hand appearance (trident hand) with persistent space between the long and ring fingers
• Marked kyphosis and lordosis (spine curvatures)
• Waddling gait
• Prominent (conspicuous) forehead (frontal bossing)
• Disproportionately large head-to-body size difference
• Hypotonia
• Polyhydramnios
• Bowed legs
• Spinal stenosis

A family history of achondroplasia should alert parents to the possibility of having an affected child.

Examination of the infant shows increased front-to-back head size (occipital-frontal circumference). There may be signs of hydrocephalus associated with enlargement of the chambers within the center of the brain (ventricular dilatation).

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

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