Definition

What is cleidocranial dysostosis?

Cleidocranial dysostosis is a disorder involving the abnormal development of bones in the skull and collar (clavicle) area. The condition is passed down through families (inherited). It is also known as Marie- Sainton Disease. Another name for the condition is Osteodental Dysplasia. The development of the bones and the teeth are affected, although the degree to which they are affected is markedly different in each patient.

How common is cleidocranial dysostosis?

Cleidocranial dysostosis is a rare condition. Approximately 1,000 cases of this disorder have been reported in the medical literature. The birth prevalence is approximately 1 in 1 million. However, it is likely underdiagnosed because many affected individuals have mild signs and symptoms. It affects males and females in equal numbers. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of cleidocranial dysostosis?

People with cleidocranial dysostosis have a jaw and brow area that sticks out. The middle of their nose (nasal bridge) is wide. The collar bones may be missing or abnormally developed. This pushes the shoulders together in front of the body.

Primary teeth do not fall out at the expected time. Adult teeth may develop later than normal, and an extra set of adult teeth grow in. This causes the normal teeth to become crooked. The condition does not affect a person’s intelligence.

Other symptoms can include:

  • Ability to touch shoulders together in front of body
  • Delayed closure of fontanelles (“soft spots”)
  • Loose joints
  • Prominent forehead (frontal bossing)
  • Short forearms
  • Short fingers

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If your child has any signs or symptoms listed above or if you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes cleidocranial dysostosis?

Cleidocranial dysostosis is a genetic disorder. It is caused by a mutation in a gene. It is passed down through families as an autosomal dominant trait. That means you only need to get the abnormal gene from one parent in order for you to inherit the disease. It is not contagious. A pregnant woman will not become more susceptible to giving birth to a baby with Cleidocranial dysostosis 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.

 

Risk factors

What increases my risk for cleidocranial dysostosis?

There are many risk factors for cleidocranial dysostosis, such as:

  • Genetics

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is cleidocranial dysostosis diagnosed?

Before birth, cleidocranial dysostosis can be diagnosed by testing DNA taken from the fetus. This can be obtained in one of the following ways:

  • By amniocentesis after the 15th week of pregnancy
  • By chorionic villus sampling (CVS) between the 11th and 14th week of pregnancy

These methods are used for high-risk pregnancies, for instance if the parents have another child diagnosed with cleidocranial dysostosis or one of the parents has cleidocranial dysostosis.

To be eligible for this testing, the mutations in the gene responsible for causing cleidocranial dysostosis in the family must be known. This means genetic testing (a blood test) must be done on the person in the family with cleidocranial dysostosis.

This condition may be diagnosed before birth using ultrasound to look for features of cleidocranial dysostosis. However, a normal ultrasound does not guarantee that the baby will not have cleidocranial dysostosis.

After birth, the diagnosis of cleidocranial dysostosis is based on X-ray findings and physical examination. A diagnosis of cleidocranial dysostosis can be confirmed by DNA testing of the RUNX2 genes (a blood test).

How is cleidocranial dysostosis treated?

Children with cleidocranial dysostosis can lead fulfilling lives if they receive attentive, informed care from their parents and health-care providers. The treatment is based on the early detection and management of the various symptoms and complications. People with cleidocranial dysostosis have a normal life expectancy.

Treatment of dental problems

Early referral to a dental clinic familiar with cleidocranial dysostosis allows for timely planning of necessary procedures. The goal of treatment is to:

  • Improve the appearance of the teeth
  • Enhance the ability to chew

This may be achieved by a combination of dental procedures which may include surgery.

Speech therapy

Speech therapy is sometimes needed during the dental treatment process.

Treatment of recurrent infections

Sinus and ear infections need timely treatment with proper medication.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage cleidocranial dysostosis?

The following lifestyles and home remedies might help you cope with cleidocranial dysostosis:

  • If your child has large openings between the skull bones (fontanelles), the head should be protected from blunt trauma. Your child should use helmets during high-risk activities such as bicycling, skateboarding and baseball.
  • If your child has low bone density (osteoporosis), your child’s doctor may suggest calcium and vitamin D supplements to strengthen the bones. Talk to your doctor.
  • Pregnant women with cleidocranial dysostosis should be monitored carefully. They may need a Caesarean section for delivery.
  • Most people with cleidocranial dysostosis lead healthy and active lives. In general, children with visible differences like short stature can have difficulties in school and society. Encourage your child to participate in activities with other children the same age. As well, try to physically adapt your child’s surroundings to support your child and encourage independence. Speak to your health care team if you need help or advice or if you are having trouble coping.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 26, 2019 | Last Modified: February 26, 2019

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