ACHONDROPLASIA CAUSES

Achondroplasia is caused by a genetic defect. It is a dominant trait, meaning that anybody with the genetic defect will display all the symptoms of the disorder. A parent with the disorder has a 50% chance of passing it on to the offspring. Although achondroplasia can be passed on to subsequent offspring, the majority of cases occur due to a new mutation (change) in a gene. Interestingly enough, the defect seen in achondroplasia is one of only a few defects known to increase in frequency with increasing age of the father (many genetic defects are linked to increased age of the mother).

People with achondroplasia have abnormally short arms and legs. Their trunk is usually of normal size, as is their head. The appearance of short limbs and normal head size actually makes the head appear to be oversized. The bridge of the nose often has a scooped out appearance termed "saddle nose." The lower back has an abnormal curvature, or sway back. The face often displays an overly prominent forehead, and a relative lack of development of the face in the area of the upper jaw. Because the foramen magnum and spinal canal are abnormally narrowed, nerve damage may occur if the spinal cord or nerves become compressed. The narrowed foramen magnum may disrupt the normal flow of fluid between the brain and the spinal cord, resulting in the accumulation of too much fluid in the brain (hydrocephalus). Children with achondroplasia have a very high risk of serious and repeated middle ear infections, which can result in hearing loss. The disease does not affect either mental capacity, or reproductive ability.