ACHONDROPLASIA

SYMPTOMS

• Short stature
• Short arm, legs, and fingers
• Disproportionately large head
• Underdeveloped mid-face
• Common ear infections
• Difficulty bending elbows
• Develop bowed legs
• Abnormal curvature of spine
• Average height a little over 4 feet

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TREATMENT

• There is no cure.
• Antibiotics for ear infections
• Surgery to fix severe spinal curves
• Growth hormones may be used at a young age

PROGNOSIS

• Normal life expectancy and intelligence
• Infants that receive both abnormal genes don't live past a few months
• Mild deficits in visual-special tasks in some children

OCCURANCE

• Most common type of dwarfism
• Occurs in 1 in 25,000 newborns
• Incidences increase with parental age

MUTATION

• 80% have parents with normal height
• Autosomal Dominant
• Found in 4th chromosome
• Homozygous mutation: child lives a few months

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