Ateleiotic dwarfism also known as growth hormone deficiency type 1A (GHD1A), is a form of dwarfism that is apparent at birth. In people with GHD1A, their bodies do not make the hormone that helps them grow normally. As a result, babies are born abnormally short. As the person grows older, they will have a very slow growth rate and remain short. People with GHD1A will have delayed puberty and may have persistently “young” facial features, even into adulthood. People with ateleiotic dwarfism are usually able to have children.
GHD1A is caused by a change (mutation) in the growth hormone gene, GH1. This gene makes the growth hormone protein, which helps give instructions to the rest of the body to grow and develop. When the protein is not working properly, it leads to dwarfism. GHD1A is inherited in an autosomal recessive pattern, which means that someone needs to inherit two copies of the mutated gene, one from each parent, to get the disorder. Their parents may be unaffected carriers.
Ateleiotic dwarfism can be diagnosed by observing short stature and delayed growth. Doctors can perform blood tests that measure the amount of growth hormone in the body. They may also use genetic testing to determine if the person has the GH1 mutations. Treatment may not be necessary, but some people may choose to attempt growth hormone replacement therapy to counteract the effects of dwarfism. If you or a family member has been diagnosed with ateleiotic dwarfism, contact your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Jan 15, 2018