There are many gene mutations that can occur that cause many types of genetic disorders . One of them is cleidocranial dysplasia.
This condition causes abnormal growth of bones and teeth.
American child actor Gaten Matarazzo, who played Dustin in the popular Netflix seriesStranger Thingsis one of those who suffer from cleidocranial dysplasia. Let’s learn more about this disorder through the following review.
Definition of Cleidocranial Dysplasia
Source: Popcraze
Quoting fromCleveland Clinic ,Cleidocranial dysplasia (CCD) is a genetic condition that causes abnormal growth and development of certain parts of the skeletal system, including the skull, bones, and teeth.
Skull and collarbone abnormalities, along with dental abnormalities, are the main features of CCD. The name “cleidocranial dysplasia” comes from “cleido” referring to the collarbone, and “cranial” referring to the skull.
People diagnosed with cleidocranial dysplasia may have physical characteristics that are different from those of most people, such as underdeveloped collarbones, short stature, unique facial characteristics, and delayed tooth development.
The bones of a person with CCD may form differently or may be more fragile than normal with lower bone density than other normal people. In some cases, certain bones such as the collarbone may be missing from the body.
Many different bones in the body can be affected by the signs and symptoms of CCD. In mild cases CCD may be less obvious and more difficult to diagnose.
Cleidocranial dysplasia is a condition that is present from birth or is also called congenital. This condition can be passed down from parent to child (genetic), or it can appear suddenly.
Although CCD has a significant impact on physical appearance, it does not affect cognitive function or intelligence. Some people with cleidocranial dysplasia require multiple surgeries, but generally they can live long lives with a good quality of life.
Symptom
Symptoms of cleidocranial dysplasia vary from individual to individual diagnosed with the condition. Some people have milder or more severe symptoms than others and the severity varies.
The most common symptoms of cleidocranial dysplasia include:
Skull and Face
- A soft area on the crown of the head (fontanel) that does not close or is delayed in infants
- A broad, flat or prominent forehead, sometimes with a vertical notch in the center.
- Low and wide nose bridge
- Wide eyes
- The face is tilted to the center and the lower jaw is small.
- High curved hard palate or cleft palate
- The sinuses are small or absent, resulting in sinusitis
- Ear problems, including ear infections and sometimes hearing loss
Tooth
- Baby teeth that do not come out on their own
- Impacted adult teeth may be encased in bone and unable to erupt on their own.
- Supernumerary (extra) teeth
- Crowded teeth
- Malocclusion (teeth do not meet properly when biting)
- Thin tooth enamel, which can make teeth more susceptible to caries (cavities)
Other areas
- Short stature
- The collarbone is not formed properly or is missing so the shoulders become sloping
- Short fingers
- narrow chest
- Extra or even missing ribs
- Abnormalities in the pelvic bones, which can complicate childbirth
- Scoliosis (curvature of the spine)
- Genu valgum (large gap between the legs when standing with knees together)
- Osteopenia (decreased bone density)
- Sleep apnea(sleep apnea)
Some children with this condition may experience slight delays in the development of motor skills such as crawling and walking. However, their overall intelligence is not affected.
Causes of Cleidocranial Dysplasia
Source: Freepik
Reporting fromMedlinePlus, cleidocranial dysplasia is usually caused by mutations in the RUNX2 gene.
This gene provides instructions for making proteins involved in the development and maintenance of teeth, bones, and cartilage.
Mutations in the RUNX2 gene that cause cleidocranial dysplasia reduce or eliminate the activity of the protein produced by one copy of the RUNX2 gene in each cell, thereby decreasing the total amount of functional RUNX2 protein.
This deficiency of functional RUNX2 protein can disrupt the normal development of bones, cartilage, and teeth, resulting in the signs and symptoms of CCD.
In rare cases, individuals with deletions of genetic material that include RUNX2 and other nearby genes may experience other conditions such as developmental delays due to the loss of these genes.
However, in about 30 percent of individuals with CCD, no mutations in the RUNX2 gene are found. The exact cause of the condition is still unknown.
Frequency of Occurrence
This condition is extremely rare, affecting only about 1 in every million people worldwide. It is thought that many cases of CCD go unreported or undiagnosed because mild CCD is often difficult to detect.
Risk Factors
Cleidocranial dysplasia is a genetic condition. Genetic means related to genes. In general, each person has two copies of each gene. One copy is inherited from the mother and the other from the father.
In most people with CCD, the mutation is new, which means it is possible for a child to have CCD without one or both parents having the condition.
However, in a small percentage of people with CCD, the gene mutation is inherited from one parent. Having a family history of CCD may also increase the risk of CCD.
Diagnosis
The condition can be diagnosed before or after birth.
Before Birth
Before birth, CCD can be diagnosed by testing DNA taken from the fetus. DNA can be obtained in one of the following ways:
- Amniocentesis, after the 15th week of pregnancy
- Chorionic villi sampling (CVS), between the 11th and 14th week of pregnancy
This method is only used for high-risk pregnancies, for example if the parents have another child diagnosed with CCD or either the mother or father has CCD.
CCD can also be diagnosed prenatally using ultrasound to look for symptoms of CCD. However, normal ultrasound is usually not very effective.
After Birth
If you notice any symptoms of cleidocranial dysplasia that interfere with your child’s ability to develop, you should consult a doctor immediately. Symptoms include:
- Feeling pain or discomfort in the mouth or teeth
- Frequent sinus or ear infections
- Having difficulty hearing or responding to basic commands
- Developmental delay
- Stop breathing at night (sleep apnea) or feel tired during the day
After birth, CCD is diagnosed by examining:
- X-ray
- Physical examination
- DNA test for the RUNX2 gene (via blood test)
Management of Cleidocranial Dysplasia
Children with cleidocranial dysplasia should visit the dentist regularly to have their teeth checked. Source: Freepik
There is no cure for CCD as sufferers will continue to live with the condition. Essentially, treatment for cleidocranial dysplasia focuses on reducing the symptoms of the condition. CCD treatments may include:
- Dental care, orthodontic treatment or dental surgery
- Surgery to correct symptoms of bone growth
- Craniofacial surgery to correct bone symptoms in the skull and face
- Wearing a head covering or helmet until the skull bones are covered
- Speech therapy
- Ear tubes
- Wearing a hearing aid
- Calcium and vitamin D supplementation
- Surgery for upper airway obstruction (to treatsleep apnea)
In general, children with CCD have quite striking differences such as short stature and can have difficulties in school and society. Encourage your child to participate in activities with other children of the same age so that he can be independent and confident.
Prevention
CCD is caused by a genetic mutation and there is no way to prevent it. If you are planning to become pregnant and are at risk of having a child with a genetic condition that can be passed on, talk to your doctor about genetic testing before planning a pregnancy.
***
Cleidocranial dysplasia is a non-life-threatening condition, does not affect a child’s intelligence and with proper symptom treatment does not affect a child’s quality of life. Hopefully this information can be useful, yes,Parents.
Republished with permission from theAsianParent Indonesia
