What is Cleidocranial Dysplasia?

Cleidocranial Dysplasia is a genetically inherited medical condition. It is also known as Cleidocranial Dysostosis and Marie- Sainton Disease. Another name for the condition is Osteodental Dysplasia. It is a rare disorder which affects the skeletal system. The development of the bones and the teeth are affected, although the degree to which they are affected is markedly different in each patient.

The symptoms can be mild enough to escape detection and diagnosis in some new born babies. It may be seen in early childhood in some children and may not show up as a hindrance at all for some adults. On the other hand, some babies may have such severe symptoms that the diagnosis can be made at birth, simply through clinical observation of the abnormal bone development.

What are the Symptoms of Cleidocranial Dysplasia?

The clavicles may be partially formed or even missing altogether. The shoulders of the baby can be brought right up together in the front of the body due to this skeletal abnormality.

The ossification of the fontanelles is delayed. This means that the space between the skull bones remains open for a longer time than usual, leaving the child vulnerable to head injuries.

The mandible, or jaw bone and the frontal bossing, or the brow bone may both have a prominent protruding angle.

There is a wide nasal bridge due to the increases space between the eyes due to hypertelorism. The child may suffer from vision issues as well.

There is a possibility of a high arched palate or even a cleft palate or cleft lip in a baby suffering from Cleidocranial Dysplasia.

A wide pelvic joint may be seen. There may be delayed growth of the pubic bone and a defect may be seen in the hip wherein the thigh bones are jutting towards the centre of the body.

There may be abnormalities in the development of teeth, with some missing, or extra teeth found in the jaw. The may be a problem with the enamel development over the teeth as well. Teeth may be misaligned and misshaped. Cysts maybe found in the gums.

The stature of the patient is often shorter than other family members. They have tapered fingers, broad thumbs, flat feet, bow legs or knock knees. They may also have scapulae or scoliosis.

Other possible complications may include a higher risk for ear infections, sinus infections, upper respiratory tract infections, and even hearing loss due to accumulation of fluid in the middle ear.

Is Cleidocranial Dysplasia Contagious?

Cleidocranial Dysplasia is a genetic disorder. It is caused by a mutation in a gene. It is not contagious. A pregnant woman will not become more susceptible to giving birth to a baby with Cleidocranial Dysplasia if she is exposed to a patient with the medical condition.

The genetic disorder is caused only if there a mutation of the RUNX2 gene. It is a very rare disorder and will affect one in a million people worldwide. There have only been a thousand recorded cases in medical literature around the world.

What are the Risk Factors for Developing Cleidocranial Dysplasia?

Cleidocranial Dysplasia is inherited in a genetic pattern called autosomal dominant inheritance. This refers to the point that a single altered gene present in one parent is enough to cause the medical condition in the baby. Genetic counselling must be undertaken before attempting a pregnancy for people who are already suffering from the condition.

Should both parents have the mutation in their genes, the baby will be born with the condition. Should only one parent have the mutation, there is a chance that the baby will inherit a mild case of the disorder, or even escape the inheritance. Genetic testing can be done on the fetus, to determine the possibility of inheritance and severity of the condition that the baby will face after birth.

Unfortunately, the gene mutation can also occur spontaneously. This refers to the fact that neither parent may be carrying the faulty gene, but the gene of the child may become mutated due to some unidentifiable reason. There is no way to avoid a spontaneous genetic mutation. Although general precautions must be taken to avoid conditions that can cause genetic mutations.

While Cleidocranial Dysplasia is associated with the genetic mutation of the RUNX2 gene in the majority of cases, nearly 30% of the patients suffering from this condition do not have this genetic mutation. The cause of the disorder is unknown in these cases. They do not even have a history of the disorder in their families. It is a puzzle that researchers are still foxed with.