Achondroplasia is a skeletal dysplasia caused by a mutation of the FGFR3 gene. In babies with achondroplasia, the cartilage in the arms and legs doesn't turn into bone the way it should. It is the most common form of dwarfism, affecting about 1 in 15,000 to 1 in 40,000 babies. Approximately 80% of babies with achondroplasia are born to average height parents, as is our case. The correct term for someone with achondroplasia is little person, LP, or person of short stature. The word "midget" is considered offensive.
What are the characteristics of achondroplasia?
- Normal intelligence
- Enlarged head with a prominent forehead and flat bridge of the nose
- Average size torso
- Short upper arms and thighs
- Short stature (average height for adult achondroplasia males is 4'4")
- Trident hand, a condition where there is extra separation between the fingertips of the third and fourth fingers
What are some of the health problems associated with achondroplasia?
- Weak muscle tone - may cause delays in motor development such as sitting, standing, and walking
- Apnea - when breathing slows or stops for a short period of time
- Obesity
- Recurrent ear infections
- Lordosis - sway of the lower back
- Bowed legs
- Kyphosis - abnormal curvature of the spine
- Spinal stenosis - narrowing of the spinal canal that compresses the spinal cord
- Hydrocephalus - fluid buildup in the brain
For more information, visit Little People of America
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