Gierke-Van Creveld Syndrome

Gierke-Van Creveld syndrome: features and treatment

Gierke-Van Creveld syndrome (GCK syndrome) is a rare hereditary disease that is characterized by reduced growth of bones and fingers, impaired dental development, the presence of heart defects and other congenital anomalies. This syndrome was named after two doctors - the German pathologist E. Gierke and the modern Dutch pediatrician S. Van Creveld.

Features of GCK syndrome include shortening of bones, especially the legs and arms, which can lead to bone deformities, spinal curvature, and organ dysfunction. Patients with GCK syndrome may also be short and underweight. In addition, patients with this syndrome may have severe dental abnormalities, such as teeth growing on the surface of the gum rather than in the roughness of the gum. Some patients with GCK syndrome may also have cardiac abnormalities such as atrioventricular conduit, which can lead to heart failure and other serious problems.

Treatment of GCK syndrome is aimed at improving the patient's quality of life and reducing symptoms of the disease. Although there is no specific therapy for this syndrome, surgery can sometimes be performed to correct bone and tooth deformities. The use of growth hormone can increase height and improve the patient's quality of life. Patients with heart problems may require heart surgery.

Although GCK syndrome is a rare disease, the lives of patients with this syndrome can be greatly improved through early detection and appropriate treatment. However, since it is a genetic disorder, parents with a family history of the syndrome should undergo genetic counseling and testing before planning a pregnancy to avoid passing on the genetic mutation to their offspring.

Overall, although GCK syndrome can be a serious illness, early detection and appropriate treatment can help patients cope with its symptoms and improve their quality of life.

Gierke-Van-Creveld syndrome is a rare genetic disease associated with defects in bone, cartilage and connective tissue in the body. It is the result of a mutation in the PEBP4 gene, which controls the production of peroxisome protein.

Symptoms of Gierke–Van Creveld syndrome: - Small arms and legs, small fingers and hands. - Unusual development of skeletal bones, such as abnormal bone growth and defects. - Limited joint mobility. - Problems in the development of the myotonic complex, also known as “flabby muscle.” - Poor wound healing. - Low fluid retention, which leads to swelling of the body. The syndrome occurs every hour in the world, but there is very little information about this disease.

There are also pathologies associated with Gierke–Van Creveld syndrome, for example, synectrania, in which there are additional abnormalities in the development of the arms and legs. The syndrome is also known to be associated with significant cardiovascular problems and delayed bone growth.