Hypochondroplasia is a form of short limb dwarfism the tends to affect the conversion of the cartilage into bone of the arms and the legs. This disease shortness the ends of the limbs. The hypochondroplasia is caused by a genetic defect and thus it ca be inherited. Hypochondroplasia is inherited through the autosomal dominant pattern which implies that one copy of the altered gene in each cell can cause the disorder. It can be inherited from one parent or both parents. If inherited from both parents, the child can have harsh bone growth complications.
Hypochondroplasia is mainly caused by the mutation of FGFR3 gene that belongs to a family gene known as the CD molecules. This gene is responsible for formation of blood vessels, embryo development, cell type determination, facilitating the healing of wounds and the provision of instructions for the production of proteins that are responsible for the development and the maintenance of the brain tissue and the bones. The FGFR3 protein spans the membrane so that one of its ends remains inside the cell while the other projects from the outer cell surface. This positioning makes the protein to interact with particular growth factors from outside and take the signals that are responsible for controlling growth and development. If for some reason the growth factors attach to the protein, the protein is activated hence triggering the chemical reactions that instruct the cells to undergo changes. The mutation of FGFR3 gene causes the FGFR3 protein to be overactive hence interfering with the skeletal development and causing the disturbance of the growth of the bones.
Symptoms of Hypochondroplasia
The people who suffer from the following are the main symptoms of hypochondroplasia.
A short stature with an adult height of 128 to 151 centimetres.
A large head
Having an increased mobility of other parts but a limitation mobility of the elbow.
The arms and legs tend to be disproportionate and have short broad feet and hands.
An abnormal alignment of the joints and bones that causes joint pain.
Having an extended curvature that is found at the lower back of the spinal cord.
Having difficulty in learning new things.
Short and broad femoral neck.
Narrowing of the spinal canal.
The lumbar pedicles tend to shorten in an anteroposterior manner.
Some people have bowed legs.
Diagnosis and Treatment of Hypochondroplasia
It is quite difficult to diagnose hypochondroplasia because there is no specific feature that defines this disorder. However, there is a common diagnostic procedure that is used to diagnose hypochondroplasia and involves the combination of x-ray and physical findings to determine if it is present. A DNA test may also be conducted to identify mutation that causes hypochondroplasia.
There is no particular treatment that can be used to cure hypochondroplasia. The treatments that are administered are meant to correct the symptoms that are caused by the condition. In some cases, surgery is conducted to rectify the bowed legs, physiotherapy is done to relieve joint pain, surgical limb lengthening is done to increase the height of the individual and human growth therapy is administered on the children to increase their height as they grow so that they can attain the normal adults size.