CLEIDOCRANIAL DYSPLASIA

QUESTIONS AND ANSWERS

Cleidocranial Dysplasia 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 mother will give birth to the infant 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.

To understand the recurrence of cleidocranial dysplasia in future pregnancies, it’s important to recognize that this condition is inherited in an autosomal dominant pattern. This means that just one copy of the altered gene in each cell can cause the disorder.

• Inherited Mutation: Some individuals inherit the mutation from one affected parent. If this is the case, the recurrence risk for future pregnancies is 50%.
• Mildly Affected Parents: Often, the parent passing on the gene may be mildly affected or might not have been previously recognized as having the disorder.
• New Mutations: In some instances, cleidocranial dysplasia results from new mutations in the gene, occurring in individuals with no family history of the disorder. For these de novo cases, the recurrence risk is very low.

Knowing whether the genetic mutation is inherited or new is crucial when assessing the likelihood of the disorder recurring in future pregnancies.

The severity of the condition the unborn child will have to deal with and the likelihood that it will become inherited may both learned 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.

Key Questions to Discuss Regarding Cleidocranial Dysplasia

When consulting with your healthcare provider about cleidocranial dysplasia, it’s crucial to cover a comprehensive set of questions to fully understand the condition and its implications. Here is a list of questions that can guide your conversation:

• Additional Diagnostic Tests: Are there any further tests that doctors can conduct to confirm the diagnosis or assess the severity of the condition?
• Presence of Other Anomalies: Aside from the primary symptoms, have any other skeletal anomalies or conditions been identified?
• Rule-Out Conditions: Have other possible conditions with similar symptoms been effectively ruled out to ensure an accurate diagnosis?
• Genetic Counseling: Would you recommend genetic testing or counseling for family planning purposes, considering the hereditary nature of the disorder?
• Treatment Options: What are the available treatment options, and what do you recommend as the most effective course of action?
• Monitoring and Management: How often should monitoring occur, and what specific criteria or milestones should parents follow?
• Impact on Lifestyle: How might this condition affect daily activities, and what adjustments should parents consider for their child?
• Support Resources: Are there support groups or resources you recommend for individuals and families dealing with this condition?

Understanding these key aspects can equip you to make informed decisions and take proactive steps in managing cleidocranial dysplasia effectively.

Cleidocranial Dysplasia 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.

Should You Consider Additional Testing?

If cleidocranial dysplasia is suspected, it’s crucial to carry out an evaluation with an expert in Fetal Medicine. This specialized approach ensures a thorough examination through clinical and radiographic findings, along with the identification of a heterozygous pathogenic variant in RUNX2. Genetic testing can be an invaluable tool here, offering insights into the condition’s presence.

In addition to DNA testing, a detailed sonographic evaluation of all other organs is recommended. This comprehensive approach ensures that any potential effects on other parts of the body are identified early, providing a clearer picture of the overall health of the fetus. By integrating these evaluations, you are well-equipped to understand the implications of cleidocranial dysplasia and ensure the best possible care for your child.

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, an extremely rare condition, 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 can result in a small chest and sloping shoulders.
• Shorter stature, a narrow pelvis, and/or poor pelvic bone structure due to Juvenile osteoporosis (reduced bone density) (height)

Skull and Facial Characteristics

• Delayed Closure of Fontanelles: The soft spots between the skull plates in infants may not close or are delayed in closing, which is a hallmark feature as the child matures.
• Forehead Shape: A prominent, rounded forehead can exist, sometimes appearing wide, flat, or protruding, occasionally with a vertical groove down the center.
• Nasal Bridge and Eye Placement: A low, wide nasal bridge is common, along with wide-set eyes that add to distinct facial features.
• Jaw and Midface Development: There may be a small midface and lower jaw, contributing to an overall unique facial profile.
• Palate Variations: Some individuals have a high-arched hard palate or may even present with a cleft palate.
• Sinus and Ear Concerns: Small or absent sinuses can lead to sinusitis, and ear problems, including infections and potential hearing loss, are also observed.

These craniofacial characteristics provide a more detailed understanding of how cleidocranial dysplasia affects the skull and face, highlighting the variability and range of symptoms that can exist.

Dental problems

Primary teeth (baby teeth) are lost, while secondary teeth (adult teeth) erupt later in life in people with CCD. We recognize that children with CCD display 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 will likely require a Caesarean procedure to give birth.

Intellectual development

Individuals with CCD have average intelligence.

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

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

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

Speech therapy

Occasionally, doctors will recommend speech therapy while the child receives major dental care.

Treatment of recurrent infections

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

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 develops 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 Cope with Cleidocranial Dysplasia

Most CCD patients lead healthy and active lives. In general, children with visible differences such as short stature may find school very difficult. Parents will need to encourage their 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.

Conclusion

Remember, finding the right orthopedic doctor will ensure that your child receives the best possible care, leading to optimal outcomes and a healthier, happier future. The Medical City Children’s Orthopedics and Spine Specialists doctors only treat children. With offices in Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX. Doctors Shyam Kishan, Richard Hostin, and Kathryn Wiesman have spent years studying children’s health and have devoted their lives to treating them.

We provide the expertise, multidisciplinary approach, and experience that can make a difference in a child’s medical condition or illness outcome. We welcome new patients and invite you to call our office and make an appointment for your child.

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Footnote:

Medline Plus: Cleidocranial Dysplasia