health

Achondroplasia is caused by a mutation in theFGFR3 gene on chromosome 4.
A normal gene helps the body convert cartilage to bone. The mutation in
the gene related to achondroplasia results in severely shortened bones
and weak muscle tone in the body.
The symptoms of achondroplasia are usually obvious by the first year
of life. They include:
• Poor muscle tone.
• Slowness in learning to walk; a child with achondroplasia may not
walk until some point between 24 and 35 months.
• Abnormal skull structure leading to frequent ear infections, apnea
(temporary slowing or stopping of breathing), and overcrowding of
the teeth.
• Distinctive facial features, particularly a prominent forehead and
underdevelopment of the nose and midface.
• Greater than normal separation of the little finger from the ring
finger, giving the hand a distinctive trident (three-pronged) shape.
• A tendency toward obesity.
• Postural problems, including a pronounced curvature of the spine
in the lower back and bowed legs.
• Back and leg pain in adult life.