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Norton Children’s Orthopedics of Louisville, affiliated with the UofL School of Medicine, offers care for children and teens with dwarfism, also called short stature, caused by achondroplasia and other conditions.
Dwarfism is a type of short stature caused by more than 300 different conditions, many of which are genetic (inherited) and present at birth (congenital). Children affected by dwarfism can have different physical traits in addition to short stature based on their specific condition. The most common condition that causes dwarfism is achondroplasia. Achondroplasia affects 1 in 20,000 babies.
Little People of America (LPA) provides more information about proper terms to describe height and body type.
Achondroplasia is a genetic bone disorder that causes cartilage to develop in an abnormal way. It is an autosomal dominant disease, meaning a child only needs to inherit one abnormal gene to have the condition. In many cases, the condition is a result of a new gene mutation in families where the parents are of average height without the abnormal gene.
Achondroplasia causes a child’s arms and legs to be short in proportion to body length. The child’s head often is large, and the trunk of the body is normal size. The average height of adult males with dwarfism caused by achondroplasia is about 4 feet, 4 inches. The average height of adult females is about 4 feet, 1 inch.
Depending on the cause of a child’s short stature, a child can experience:
Achondroplasia and other types of dwarfism can be detected before birth by a fetal ultrasound. It also can be diagnosed after birth by physical exam. DNA testing is available before birth to confirm ultrasound findings for parents who may be at increased risk for a child with the condition.
There are no treatments to prevent or cure achondroplasia, since the condition can be caused by unexpected gene mutations. Growth hormone treatments do not affect height in a substantial way. Treating the condition consists of treating bone abnormalities and issues that children can develop because of dwarfism. Depending on a child’s age, medical history and expression of dwarfism, treatments may include: