About Cleidocranial Dysplasia

What is Cleidocranial Dysplasia?

Cleidocranial dysplasia (CCD) is a rare genetic disorder that affects the development of bones and teeth. It is characterized by the partial or complete absence of collarbones, delayed closure of the fontanels, and abnormal development of the teeth. Other features may include short stature, skeletal abnormalities, and hearing loss.

What are the symptoms of Cleidocranial Dysplasia?

Common symptoms of Cleidocranial Dysplasia include:

-Delayed closure of the fontanels (soft spots) in the skull
-Underdeveloped or absent collarbones (clavicles)
-Narrowing of the chest
-Abnormal development of the teeth, including delayed eruption, missing teeth, and supernumerary (extra) teeth
-Short stature
-Scoliosis (curvature of the spine)
-Kyphosis (abnormal curvature of the upper spine)
-Hearing loss
-Abnormalities of the hands and feet, including short fingers and toes, and webbing between the fingers and toes
-Delayed motor development
-Delayed speech development
-Intellectual disability

What are the causes of Cleidocranial Dysplasia?

Cleidocranial Dysplasia (CCD) is a genetic disorder caused by a mutation in the RUNX2 gene. This gene is responsible for the development of bones and teeth. The mutation can be inherited from a parent or can occur spontaneously.

What are the treatments for Cleidocranial Dysplasia?

Treatment for cleidocranial dysplasia is focused on managing the symptoms and complications associated with the condition. Treatment may include:

• Orthopedic surgery to correct skeletal deformities

• Physical therapy to improve muscle strength and coordination

• Speech therapy to improve communication skills

• Dental care to address malocclusion and other dental issues

• Surgery to correct hearing loss

• Surgery to correct vision problems

• Surgery to correct scoliosis

• Surgery to correct bone deformities

• Hormone replacement therapy to address growth hormone deficiency

• Surgery to correct cleft palate or other facial deformities

• Surgery to correct umbilical hernias

• Surgery to correct hydrocephalus

• Surgery to correct spinal deformities

• Surgery to correct joint contract

What are the risk factors for Cleidocranial Dysplasia?

1. Cleidocranial Dysplasia is an inherited disorder, so the primary risk factor is having a family history of the disorder.

2. Being a male is also a risk factor, as males are more likely to be affected by the disorder than females.

3. Being of Caucasian descent is also a risk factor, as the disorder is more common in this population.

Is there a cure/medications for Cleidocranial Dysplasia?

There is no cure for cleidocranial dysplasia, but there are treatments available to help manage the symptoms. These treatments may include physical therapy, orthodontic treatment, and surgery. Medications may also be prescribed to help manage pain and other symptoms.