Spondylometaphyseal dysplasias (SMDs) are a group of conditions that cause problems with bone growth. SMDs begin during infancy. Doctors are usually able to tell that someone has an SMD when they are about two years old. SMDs can cause a person to have trouble walking.
The East-African type of SMD is very rare. The East-African type is most similar to the A4 type of SMD. Some scientists think the East-African and the A4 types may actually be the same condition.
Someone with either the East-African type or the A4 type of SMD will have a femur (thigh bone) that does not grow properly. The East-African and A4 types also cause growth problems in the spine. The spine is a group of bones that runs along a person’s back. The individual bones in the spine are called vertebrae. Someone with the East-African or A4 type of SMD will have vertebrae that are flatter than most other people’s.
This condition is most likely passed down from parents to their children through genes. Genes are segments of DNA that act as our instruction manuals. A person usually has two copies of every gene. One copy is from their father and one copy is from their mother. A change in a gene is called a mutation. Sometimes a person needs only one copy of a mutated gene to have a disorder, and sometimes a person needs two copies. It is unknown how many copies of the mutated gene a person needs in order to have the East-African type of SMD.
If you or a family member has been diagnosed with spondylometaphyseal dysplasia, East-African type, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.