Cleidocranial Dysplasia: Symptoms and Treatment

Written by Medicover Team and Medically Reviewed by Dr Shashivardhan , Orthopedics

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Cleidocranial dysplasia is a rare inherited genetic disorder that primarily affects the development of bones and teeth. It is caused by mutations in the RUNX2 gene, which plays a vital role in bone formation and skeletal growth. People with this condition may have underdeveloped or absent collarbones, delayed closure of the skull bones, short stature, and delayed eruption of permanent teeth.

The severity of symptoms varies among individuals, with some experiencing only mild skeletal abnormalities while others require extensive dental and orthopedic treatment. Early diagnosis and coordinated care involving orthopedic specialists, dentists, and other healthcare professionals can help improve function, appearance, and overall quality of life.

What are the Symptoms of Cleidocranial Dysplasia?

The symptoms of CCD are diverse and can impact various parts of the body. Here are some common symptoms:

Skeletal Abnormalities

One of the most noticeable symptoms is the underdevelopment or absence of clavicles, which allows for an unusual range of shoulder movement. Other skeletal issues may include:

Shortened, Tapered Fingers
Flat Feet
Scoliosis (Curvature of the Spine)
Delayed Growth of Long Bones

Dental Issues

Dental problems are a hallmark of CCD. These can include:

Delayed Loss of Baby Teeth
Delayed Eruption of Adult Teeth
Misaligned Teeth
Extra Teeth (Supernumerary Teeth)
Abnormal Shape and Structure of Teeth

Other Symptoms

In addition to skeletal and dental issues, individuals with CCD may experience:

Hearing Loss
Sinus Infections
Respiratory Issues

What are the Causes of Cleidocranial Dysplasia?

CCD is caused by mutations in the RUNX2 gene, which is essential for the development of bones and teeth. This gene mutation is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is sufficient to cause the disorder. In some cases, the mutation occurs spontaneously, with no family history of the condition.

When to See a Doctor for Cleidocranial Dysplasia?

If you or your child has delayed tooth eruption, underdeveloped collarbones, abnormal skull development, or other skeletal abnormalities, consult an Orthopedic Specialist. Early diagnosis and timely treatment can help manage skeletal deformities, improve physical function, address dental concerns, and enhance overall quality of life.

If your child has delayed closure of the soft spots (fontanelles) or abnormal skull development.
If you notice absent or underdeveloped collarbones, allowing unusual shoulder movement.
If permanent teeth fail to erupt or there are multiple extra or missing teeth.
If your child has short stature, abnormal posture, or other skeletal deformities.
If you experience recurrent bone or joint problems that affect daily activities.
If there is a family history of cleidocranial dysplasia or other inherited skeletal disorders.
If genetic testing or imaging suggests cleidocranial dysplasia and specialist evaluation is needed.
If you or your child is diagnosed with or suspected to have cleidocranial dysplasia, consult an Orthopedic Specialist for a comprehensive evaluation, treatment planning, and long-term multidisciplinary care.

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How is Cleidocranial Dysplasia Diagnosed?

Diagnosis typically involves a combination of clinical evaluation, radiographic imaging, and genetic testing.

Clinical Evaluation

A thorough physical examination can reveal many of the characteristic features of CCD. Doctors often look for:

Absent or Underdeveloped Clavicles
Abnormal Skull Shape
Dental Anomalies

Radiology

Radiographic imaging, such as X-Rays, is crucial for diagnosing CCD. X-rays can show underdeveloped or absent clavicles, delayed bone age, and other skeletal abnormalities.

Genetic Testing

Genetic testing can confirm the diagnosis by identifying mutations in the RUNX2 gene. This is particularly useful for individuals with less obvious physical symptoms.

How is Cleidocranial Dysplasia Treated?

While there is no cure for CCD, various treatments can help manage the symptoms and improve quality of life. Treatment plans are usually tailored to the individual's specific needs and may include:

Dental Care

Dental issues often require extensive treatment, including:

Orthodontic Work to Align Teeth
Dental Surgery to Remove Extra Teeth
Dental Implants to Replace Missing Teeth

Orthopedic Care

Orthopedic interventions can help manage skeletal abnormalities. These may include:

Physical Therapy to Improve Mobility and Strength
Surgery to Correct Skeletal Deformities, Such as Scoliosis
Custom Orthotics for Foot Support

Hearing and Respiratory Care

Individuals with hearing loss may benefit from hearing aids. Respiratory issues may require treatment such as:

Medications for Sinus Infections
Surgery to Correct Structural Issues in the Nasal Cavity

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What is Living with Cleidocranial Dysplasia Like?

Living with CCD can be challenging, but many individuals lead full and active lives with the right support and treatment. Early diagnosis and intervention are crucial for managing symptoms effectively.

Support and Resources

Connecting with support groups and organizations can provide valuable information and emotional support. Some resources include:

The Cleidocranial Dysplasia Foundation
Genetic and Rare Diseases Information Center (GARD)
Local and Online Support Groups

How is Cleidocranial Dysplasia Prevented?

Since CCD is a genetic disorder, there is no known way to prevent it. However, genetic counseling can help families understand the risks and implications of the condition. Couples with a family history of CCD or those who have a child with the disorder may benefit from genetic counseling to discuss their options.