Stranger Things Actor Gaten Matarazzo Highlights Cleidocranial Dysplasia: A Rare Genetic Disorder


Stranger Things Actor Gaten Matarazzo has helped generate public awareness about the rare disease Cleidocranial Dysplasia which is a malady that primarily affects the growth of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary extensively in cruelty, even within the related family.

The signs can be moderate enough to avoid detection and diagnosis in some newborn babies. It might be seen in early teens in some children and might not show up as an obstacle at all for some adults. However, on the other hand, some children might have such critical signs that the diagnosis can be made at birth, solely through clinical inspection of the abnormal bone growth.

Let’s get into it on a deeper level in this article. 

Signs of Cleidocranial Dysplasia

  1. People with cleidocranial dysplasia normally have underdeveloped or missing collarbones, also called clavicles (“cleido-” in the disease name applies to these bones). As a consequence, their shoulders are thin and sloping, can be brought surprisingly close together in front of the body frame, and in a few cases can be made to join in the core of the body. 
  1. Late maturation of the skull (cranium) is also a trait of this disease, including slowed closing of the maturity lines where the bones of the skull join (sutures) and more extensive than common spaces (fontanelles) between the skull bones that are obvious as “soft spots” on the fronts of infants.
Cleidocranial Dysplasia
  1. The fontanelles usually close in early teens, but they might stay open throughout life in individuals with this disorder. Some people with cleidocranial dysplasia have additional parts of bone called Wormian bones within the joints.
  1. Affected people are often shorter than other individuals of their house at the same age. Many people also have small, tapered fingers and wide thumbs; flat feet; knock knees; short shoulder blades (scapulae); and an unnatural curvature of the spine (scoliosis). Normal facial features bear a wide, short skull (brachycephaly); a noticeable forehead; wide-set eyes (hypertelorism); a flat nose; and a short upper jaw.
  1. People who are suffering from cleidocranial dysplasia often have reduced bone density (osteopenia) and might develop osteoporosis, a malady that makes bones progressively more fragile and prone to fracture, at a moderately early age. Women with cleidocranial dysplasia have a higher risk of needing a cesarean section when delivering a baby, due to a small pelvis preventing the way of the baby’s head.
  1. Dental abnormalities are very popular in cleidocranial dysplasia and can involve prolonged loss of the primary (baby) teeth; late arrival of the secondary (adult) teeth; oddly shaped, peg-like teeth; misalignment of the teeth and jaws (malocclusion); and additional teeth, sometimes accompanied by sores in the gums.

In addition to skeletal and dental irregularities, individuals with cleidocranial dysplasia might have hearing loss and are inclined to sinus and ear infections. Some young children with this disease moderately daily develop motor skills such as dragging and walking, but intelligence is unaffected.

Causes of Cleidocranial Dysplasia

Cleidocranial dysplasia is normally caused by changes in the RUNX2 gene. This gene gives guidance for making a protein that is required in the growth and sustenance of teeth, bones, and cartilage. 

Cartilage is a strong, resilient tissue that makes up much of the skeleton during initial growth. Most cartilage is later transformed to bone (a method called ossification), except for the cartilage that proceeds to hide and guard the edges of bones and is present in the nose, airways, and outer ears.

Cleidocranial Dysplasia

The RUNX2 protein is a transcription agent, which suggests that it joins (binds) to particular regions of DNA and aids in controlling the activity of selective genes. Researchers suppose that the RUNX2 protein serves as a “master switch,” controlling several different genes included in the growth of cells that create bones (osteoblasts) and in the growth of teeth.

The RUNX2 gene variations that cause cleidocranial dysplasia decrease or reduce the activity of the protein generated from one copy of the RUNX2 gene in each cell, reducing the total number of functional RUNX2 proteins.

This deficiency of functional RUNX2 protein intervenes with the normal growth of bones, cartilage, and teeth, occurring in the signs and symptoms of cleidocranial dysplasia.

 In exceptional cases, people with a deletion of genetic material that constitutes RUNX2 and other nearby genes may encounter extra features, such as developmental lag, emerging from the lack of these genes.

In about thirty percent of people with cleidocranial dysplasia, no variation in the RUNX2 gene has been found. The cause of the disease in these people is anonymous.


  1. Headgear might be worn to guard the skull bones until they close. Suitable dental care should be given. When the cleft palate is modern surgery might be done to stop or block the opening. Listening to evaluations should be done at birth and during early childhood.
  1. Affected people have a higher risk for sleep apnea, sinus infections, and ear infections due to prolonged craniofacial development and should be viewed for these difficulties. Speech and communication might also need to be checked by a speech pathologist.
  1. Genetic counseling might be of privilege for patients and their families. Another therapy is symptomatic and supportive.
  1. Orthodontics and oral operation can address additional or impacted teeth. The first level is a thorough evaluation of each tooth, accompanied by the removal of any new teeth. 
  1. To maintain viable teeth, practitioners may eliminate gum tissue and guide the development of those teeth into the mouth with braces. For a quicker result, some patients prefer implants, bonds, or dentures. Oftentimes jaw surgery is essential to correct the bite.

Cleidocranial dysplasia does not typically influence recognition and corporeal aptitude — as shown by Matarazzo’s active onscreen drama. 

And other children need not worry about the birth defect or utilize it as a reason to eliminate kids from activities.

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