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Achondroplasia

Symptoms: 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. Signs and tests: Text Continues Below 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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