Cleidocranial Dysplasia: Symptoms, Causes, Treatment

What are the symptoms of cleidocranial dysplasia?

Cleidocranial dysplasia (CCD) is a rare genetic disorder that affects the development of bones and teeth. The symptoms of CCD can vary widely from person to person, but some common features include:

1. Abnormalities of the skull: People with CCD may have a large, prominent forehead; a wide, flat bridge of the nose; and a small upper jaw (maxilla), which can cause dental crowding and malocclusion (misalignment of the teeth).
2. Delayed closure of fontanelles and sutures: The fontanelles (soft spots) on a baby’s skull normally close by the age of 2, but in individuals with CCD, the fontanelles may remain open longer. The sutures (the seams between the skull bones) may also be slow to fuse.
3. Underdeveloped or absent collarbones (clavicles): The collarbones may be partially or completely absent in people with CCD, which can affect the appearance and function of the shoulders and chest.
4. Short stature: Some individuals with CCD may have short stature compared to others in their family.
5. Dental abnormalities: CCD is often associated with delayed eruption of primary and permanent teeth, supernumerary (extra) teeth, and dental crowding. The teeth may also be smaller than normal and may have abnormal shapes.
6. Other skeletal abnormalities: In addition to the collarbones, other bones may be affected in CCD, including the bones of the hands, feet, spine, and pelvis. Some individuals may have extra fingers or toes (polydactyly), and there may be abnormalities of the spine, such as scoliosis (sideways curvature) or kyphosis (forward curvature).
7. Hearing loss: Some individuals with CCD may have hearing loss due to abnormalities of the middle ear or inner ear.
8. Recurrent infections: People with CCD may be more prone to recurrent respiratory infections, such as sinusitis or ear infections, due to abnormalities of the skull and facial structures.

It’s important to note that the severity and combination of symptoms can vary widely among individuals with CCD, even within the same family. If you suspect that you or someone you know may have CCD, it’s important to consult with a healthcare professional for a proper diagnosis and management plan.

What are the causes of cleidocranial dysplasia?

Cleidocranial dysplasia (CCD) is caused by mutations in the RUNX2 gene, which is responsible for producing a protein that plays a critical role in the development of bones and teeth. The specific mutations that cause CCD can vary, and the inheritance pattern of CCD can also vary depending on the specific mutation.

In most cases, CCD is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, in some cases, CCD can occur sporadically, meaning that there is no family history of the condition and it is caused by a new mutation in the gene.

The RUNX2 gene is involved in the formation of bone and teeth during embryonic development. Mutations in this gene can disrupt the normal development of these structures, leading to the characteristic features of CCD, such as underdeveloped or absent collarbones, delayed closure of fontanelles and sutures, dental abnormalities, and other skeletal abnormalities.

It’s important to note that while CCD is caused by mutations in a single gene, the effects of these mutations can be complex and can vary widely among individuals with the condition. Treatment for CCD is typically focused on managing the symptoms and complications associated with the condition, such as dental problems and skeletal abnormalities.

What is the treatment for cleidocranial dysplasia?

The treatment for cleidocranial dysplasia (CCD) is typically aimed at managing the symptoms and complications associated with the condition. The specific treatment plan will depend on the individual’s symptoms and the severity of the condition.

1. Dental care: Dental abnormalities are common in CCD, including delayed eruption of teeth, supernumerary (extra) teeth, and dental crowding. Treatment may involve orthodontic treatment to correct tooth alignment, extraction of supernumerary teeth, and other dental procedures to improve the appearance and function of the teeth.
2. Skeletal abnormalities: People with CCD may have underdeveloped or absent collarbones (clavicles) and other skeletal abnormalities. Treatment may include physical therapy to improve muscle strength and function, as well as orthopedic interventions to address skeletal abnormalities such as scoliosis (sideways curvature of the spine) or kyphosis (forward curvature of the spine).
3. Speech therapy: Some individuals with CCD may have speech difficulties due to abnormalities of the skull and facial structures. Speech therapy can help improve articulation and communication skills.
4. Hearing loss: People with CCD may be at increased risk of hearing loss due to abnormalities of the middle ear or inner ear. Treatment may include hearing aids or other interventions to improve hearing.
5. Surgical interventions: In some cases, surgery may be recommended to correct skeletal abnormalities, such as scoliosis, or to address other complications of CCD.
6. Psychosocial support: Living with a rare condition like CCD can be challenging, and individuals with CCD and their families may benefit from counseling or support groups to help cope with the emotional and psychological aspects of the condition.

While there is no cure for CCD, early and ongoing management of symptoms can help improve quality of life for individuals with the condition. Treatment is typically coordinated by a team of healthcare professionals, including dentists, orthodontists, orthopedic surgeons, speech therapists, and psychologists, to provide comprehensive care that addresses the physical, emotional, and social aspects of CCD.