Pediatric Orthopedic Surgeons treating Cleidocranial Dysplasia

CLEIDOCRANIAL DYSPLASIA

 

Cleidocranial Dysplasia is a genetically inherited medical ailment. The skeletal system is affected by a mutated gene that can be passed by either parent or it can occur from the spontaneous mutation of a gene.

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Cleidocranial Dysplasia

Cleidocranial Dysplasia, sometimes called Osteodental Dysplasia, Marie-Sainton Disease, or Cleidocranial Dysostosis is a genetically inherited medical ailment. The skeletal system is affected by the uncommon condition known as cleidocranial dysplasia. Although each patient is afflicted to a different extent, both the development of the bones and the teeth are impacted. In some newborns, the signs of this illness appear so slight that they go undetected and undiagnosed. Furthermore, some infants with Cleidocranial Dysplasia may exhibit symptoms as early as infancy, while other people may not exhibit any symptoms at all. On the other hand, some infants could have such severe symptoms that the delivery doctor will diagnosis the condition at birth just by looking at the child and confirming aberrant bone formation.

Genetics

A mutation in the RUNX2 gene alone can cause the genetic disease cleidocranial dysplasia. It is believed that one in a million persons globally suffer from this extremely unusual illness. Actually, there have only been a little over a thousand cases reported in medical literature around the globe.

Risk factors

Autosomal dominant inheritance is the genetic type that causes cleidocranial dysplasia. This emphasizes the idea that all it takes for a medical problem to develop in a newborn is for one mutated gene to exist in one parent. Before trying for a baby, those who already have the disorder must get genetic counseling. Unfortunately, the infant will be born with the disorder if both parents carry the gene mutation. Comparatively, only one parent who carries the mutation will also have a chance of becoming pregnant and producing a child who will either not pass on the mutation or only acquire a moderate form of the condition.

The severity of the condition the unborn child will have to deal with and the likelihood that it will become inherited may both be assessed by genetic testing during the pregnancy. Also susceptible to the spontaneous occurrence is the gene mutation that causes Cleidocranial Dysplasia. This refers to the possibility that the defective gene is not present in either parent, but rather that the child’s gene may have changed for an unknown cause. There is no way to avoid spontaneous genetic mutations. However, our doctors will suggest that the mother take general precautions during pregnancy to avoid situations that can lead to genetic mutations.

Most often, Cleidocranial dysplasia is associated with genetic mutations in the RUNX2 gene, although nearly 30% of patients suffering from this condition do not carry this genetic mutation. In these cases, the cause of the failure is unknown. In fact, many of these individuals have no family history of the disorder.

Diagnosis

Prenatal or postnatal diagnosis are both options for cleidocranial dysplasia. It is possible to detect CCD before birth by testing the fetus’ DNA. To acquire this, use one of the following methods:

  • Following the fifteenth week of pregnancy, using amniocentesis.
  • Between the eleventh and fourteenth week of pregnancy, using chorionic villus sampling (CVS).

These techniques are utilized for high-risk pregnancies, such as when one or both parents has CCD or the parents have another kid who has the condition. Our doctors will encourage this testing if the gene mutations in the family that cause CCD are known. This suggests that a family member who has CCD must undergo genetic testing (a blood test). Using ultrasonography to scan for CCD symptoms might lead to a prenatal diagnosis of CCD. A typical ultrasound does not, however, ensure that the unborn child will not have CCD.

Treatment

Dental problems such as delayed eruption and extra teeth are the most serious complications of Cleidocranial dysostosis, so proper dental and orthodontic treatment is essential. Dental problems are due to direct effects on tooth development caused by mutations in the RUNX2 gene. Middle ear infections and sinus infections are very frequent and call for prompt medical attention.

If your child has frequent ear infections, we recommend using a ventilation tube. These are small tubes that are surgically inserted into the eardrum to equalize pressure and ventilate the middle ear to prevent further infection and hearing loss. A pediatric orthopedic expert like those in our practice should also examine your child to check for scoliosis, osteoporosis, irregular bone density, and other bone anomalies such as missing collar bones.

Treatment of Cleidocranial dysplasia

If their parents and medical professionals are attentive and knowledgeable, children with CCD can enjoy happy lives. The management of the many symptoms and problems is the foundation of the treatment. The life span of those with CCD is typical.

Treatment of dental problems

Early referral to a dental practice experienced with CCD enables prompt planning of any required dental surgery. The treatment’s objective is to:

  • Enhance the teeth’s visual appeal.
  • Boost chewing capacity.

Speech therapy

Occasionally, speech therapy is required while receiving dental care.

Treatment of recurrent infections

Ear and sinus infections require prompt medical attention and the right medicines.

Prevention of head injuries

Children must wear helmets during high-risk activities such as cycling, skateboarding, and baseball.

Calcium and Vitamin D supplementation

Our doctors may advise calcium and vitamin D supplements to strengthen the bones if your child has a poor bone density level.

Monitoring of pregnant women

Women who have CCD throughout pregnancy need continued observation as delivery may require a Caesarean.

Helping your child

Coping with Cleidocranial dysplasia

Most CCD patients lead healthy and active lives. In general, children with visible differences such as short stature may have difficulties in school and socially. Encourage your child to participate in activities with other children their age. Also, physically adjust your child’s environment to support him and encourage independence. Talk to your medical team if you need help or advice, or have trouble coping.

Genetic counseling for Cleidocranial dysplasia

Families and individuals with CCD should think about having a geneticist and a genetic counselor evaluate them. With the following, they can assist:

  • Proving the diagnosis
  • Talking about the disease’s natural history.
  • Examining the various illness management choices.

Signs, symptoms, and how Cleidocranial dysplasia affects the body

Symptoms of CCD vary greatly from person to person with CCD. This also applies to people in the same family who have CCDs. Therefore, CCD is extremely rare and affects 1 child in 1 million worldwide. Both boys and girls can have CCDs.

Bone problems

  • A bone development abnormality called CCD exists. The different issues with bone growth include:
  • It takes longer than anticipated for the gaps between the skull’s bones (called fontanelles) to close. The fontanelles may partially shut in a tiny percentage of persons over their lifespan.
  • Lacking one or both collarbones, which can result in a small chest and sloping shoulders.
  • Shorter stature, a narrow pelvis, and/or poor pelvic bone structure due to osteoporosis (reduced bone density) (height)

Dental problems

Primary teeth (baby teeth) are lost, while secondary teeth (adult teeth) erupt later in life in people with CCD. The result is a misaligned jaw and overcrowding of teeth.

Height and body shape

It is possible for those with CCD to grow not as tall as normal. Boys’ actual height is typically six inches less than anticipated. The ultimate height is around three inches shorter for girls. Those who have CCD are more prone to experience further alterations in their bones, such as:

  • short, tapered fingers and broad thumbs
  • flat feet
  • knocking knees

Osteoporosis

An increased risk of low bone density exists in those with CCD. Using a specialized test known as a DEXA scan, bone density is determined.

Medical problems

People with CCD frequently experience recurring sinus, ear, and chest infections. Hearing loss may result from frequent ear infections.

Cesarean section

Due to their tiny pelvis and/or unusually formed pelvic bones, women with CCD are more likely to require a Caesarean procedure to give birth.

Intellectual development

Individuals with CCD have average intelligence.

 

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