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Achondroplasia is a bone growth disorder. The problem occurs when the cartilage has difficulty converting to bone, especially in the long bones of the arms and legs. All people with achondroplasia have a short stature. The average height of an adult male with achondroplasia is 131 centimeters (52 inches, or 4 feet 4 inches), and the average height of an adult female with achondroplasia is 124 centimeters (49 inches, or 4 feet 1 inch). Achondroplasia is a genetic (inherited) condition that results in abnormally short stature. All persons with achondroplasia are little people. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4) in males and 124 cm (49 inches, or 4 foot 1) in females. Achondroplasia is the most common cause of short stature with disproportionately short limbs. Achondroplasia is a disorder of bone growth. Although achondroplasia literally means "without cartilage formation," the problem in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the long bones. Achondroplasia is one of the oldest known birth defects. The frequency of achondroplasia is estimated to range from about 1 in 10,000 births in Latin America to about 12 in 77,000 in Denmark. An average figure worldwide is approximately 1 in 25,000 births. Achondroplasia is inherited by an autosomal dominant gene that causes abnormal cartilage formation. Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected. Dominant means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait. So, in some cases, the child inherits the achondroplasia from a parent with achondroplasia. The majority of achondroplasia cases (80 percent), however, are the result of a new mutation in the family - the parents are of average height and do not have the abnormal gene. http://www.healthsystem.virginia.edu/UVAHealth/peds_diabetes/achondro.cfm The following are the most common symptoms of achondroplasia. However, each child may experience symptoms differently. Symptoms may include: Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. DNA testing is now available before birth to confirm fetal ultrasound findings for parents who are at increased risk for having a child with achondroplasia. Currently, there is no way to prevent or treat achondroplasia, since the majority of cases result from unexpected new mutations. Treatment with growth hormone does not substantially affect the height of an individual with achondroplasia. In 1994 Dr. John Wasmuth and his colleagues discovered Achondroplasia affecting 1 in 25,000 live births The pattern of inheritance for Achondroplasia is autosomal dominant. Where one parent has Achondroplasia, there is a 50% (1 in 2) chance of each and every child being affected. If both parents have Achondroplasia, each and every child has a 50% (1 in 2) chance of having Achondroplasia and a 25% (1 in 4) chance of being unaffected. FGFR3 gene Dwarfism
 * shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs
 * large head size with prominent forehead and a flattened nasal bridge
 * crowded or misaligned teeth
 * curved lower spine - a condition also called lordosis (or "sway-back") which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking.
 * small vertebral canals (back bones) - may lead to spinal cord compression in adolescence. Occasionally children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.
 * bowed lower legs
 * flat feet that are short and broad
 * extra space between the middle and ring fingers (Also called a trident hand.)
 * poor muscle tone and loose joints
 * frequent middle ear infections which may lead to hearing loss
 * normal intelligence
 * delayed developmental milestones such as walking (which may occur between 18 to 24 months instead of around one year of age)