Hypochondroplasia is a genetic disorder causing short limbs and physique, an oversized head, and other traits. It is a form of dwarfism caused by a mutation in the FGFR3 gene. Surgery can treat it, but there is no cure. It can also cause neurological disorders and other health problems. A person with hypochondroplasia has a 50% chance of passing it on to their offspring. Support groups like Little People of America, Inc. offer help and information.
Hypochondroplasia is a condition that causes a person to develop short limbs and short hands and feet. A person with the condition is characterized by having a short physique. Typically, an adult male with the condition ranges in height from 4 feet 6 inches (about 1.37 m) to 5 feet 5 inches (about 1.65 m). An adult female with the disorder typically ranges from 4 feet 2 inches (about 1.27 m) to 4 feet 11 inches (about 1.5 m) tall. Generally, a person with hypochondroplasia is also known for other traits, including an oversized head, partial range of motion in the elbows, and bent legs.
One in 15,000-40,000 live births results in hypochondroplasia. The condition may go unnoticed at birth, because weight and length are often normal, and the limb-to-trunk discrepancy is not pronounced. As a child gets older, the condition becomes more apparent—it’s typically diagnosed between the ages of two and six.
Hypochondroplasia, a genetic disorder, is a form of dwarfism and is caused when there is a problem with the cartilage forming in the bones in certain areas of the body. The condition is the result of a mutation or alteration in the fibroblast growth factor receptor 3 (FGFR3) gene. There is no cure for the condition.
A person with hypochondroplasia will often have normal intelligence; but in 10% of cases, a child is born with mild mental retardation or grows up with learning disabilities. Those living with the genetic defect are prone to neurological disorders, including slowness and abnormal reflexes due to pressure on the spinal canal. Additionally, a person with this condition may suffer from other health problems, including sleep apnea and middle ear infections.
Hypochondroplasia can be treated with surgery. Surgical methods include lengthening the limbs by attaching rods to the stretched bones of the legs and arms. After about 18-24 months, the tension on the rods increases body size. This procedure, an elective surgery, can increase a person’s height by a foot, but it can also lead to infection and nerve problems.
A person with hypochondroplasia who has offspring with a partner who does not have the genetic disorder has a 50% chance of having a child with the condition. While it is common for a person with hypochondroplasia not to suffer from a learning disability or mental retardation, the individual will have to contend with being small in size and may have issues with activities such as driving. There are support groups, including Little People of America, Inc., to help people with this genetic condition. Such groups can offer personal support and provide information on medical issues, employment and disability rights.
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