Cleidocranial Dysplasia Syndrome

Cleidocranial dysplasia syndrome, or CLCD, is a congenital condition that affects teeth and bones such as the cranium, ribs and collarbones. Cleidocranial dysplasia is classified as a rare disease, and signs of the syndrome are usually first seen in newborn babies and children. Due to its genetic origins, cleidocranial dysplasia can be passed on through generations.

History

• Cleidocranial dysplasia syndrome was first discovered in 1892 by two researchers named Marie and Stanton and was once known as cleidoc ranial dysostosis before being renamed at a nomenclature conference in 1969. Although this syndrome is very rare, cases and symptoms of cleidocranial dysplasia continue to be reported, and literature documents these reportings as far back as 1897.

Causes

• Because cleidocranial dysplasia syndrome is a genetic disorder, the causes can usually be attributed to a mutation in genes such as the RUNX2 gene, which is responsible for producing a protein that aids in the proper development of cartilage and bones. However, although gene mutation is the culprit for many cases of cleidocranial dysplasia syndrome, there are existing cases where no mutation in the RUNX2 gene is present, meaning that a mutation is not necessary for cleidocranial syndrome to develop in the body.

Identification

• Cleidocranial dysplasia syndrome is commonly identified by underdevelopment in many of the patient's bones. In many cases, collarbones are either severely underdeveloped or missing from the body entirely. Other physical attributes to cleidocranial dysplasia syndrome include disproportionate facial features like a large forehead and small jaw, wide thumbs, flat feet and overall short stature. Dental problems like cysts and misshapen teeth are also common signs of thel syndrome.

Effects

• Effects caused by cleidocranial dysplasia syndrome include negatively affected bone density and osteoporosis. Bones in patients that have been diagnosed with cleidocranial dysplasia syndrome are more prone to become weak and break due to the lowered amounts of bone density. Scoliosis, small pelvic diameters, continual ear infections and speech impediments are also common effects of this syndrome.

Prevention/Solution

• Although the symptoms of cleidocranial syndrome can be treated, such as treating oral cysts and repairing misaligned teeth, there is no cure for the syndrome itself. Other treatment options for symptoms include taking calcium and vitamin D supplements for bone health, undergoing speech therapy and using tympanostomy tubes for ear infections.