Kaitlyn Grubbs

Mrs. Murray
Honors Anatomy and Physiology
30 November 2017
Cleidocranial Dysplasia

Have you seen the hit show “Stranger Things” on Netflix? Dustin, who is played by

Gaten Matarazzo, has an obvious lisp. This lisp is caused by a disability called cleidocranial

dysplasia. This rare congenital, hereditary disorder occurs in approximately one in every million

individuals worldwide (U.S. National Library of Medicine), however it is probable that this

disability is underdiagnosed.

Cleidocranial dysplasia is characterized mainly by collarbones that are either absent or

reduced in size which can result in an individual’s ability to touch their shoulders together in

front of their chest. The cranial sutures fuse later than they should and deciduous teeth are late to

fall out, so the permanent teeth are often abnormal. Matarazzo does not have collarbones and still

has his baby teeth despite being fourteen years old. An individual may also suffer from various

skeletal abnormalities such as abnormally large, wide-open fontanels (soft spot in skulls of

infants) at birth, frontal and parietal bossing and mid-face retrusion (these parts of the head stick

out more), narrow, sloping shoulders, abnormal dentition (teeth), hand abnormality, and short

stature. Cleidocranial dysplasia does not have different forms, but the severity of the disease

varies from case to case.

Individuals with this may have decreased bone density and develop osteoporosis, a

condition that progressively breaks down the bones, at a relatively early age. Women who have

the disorder may require a cesarean section due to their narrow pelvis. Individuals in general may
also develop hearing loss, be prone to sinus and ear infections, and some young children are

mildly delayed in their development of motor skills. However, intelligence in unaffected.

The disorder is usually caused by a mutation on the RUNX2 gene, which provides

instructions for making a protein involved in the development and maintenance of teeth, bones,

and cartilage. In order for this to be diagnosed, it usually starts with parents or doctors expressing

concerns for the child whenever symptoms are present. The disorder can be verified through

radiographic findings, clinical findings, and genetic testing. Individuals who have uncommon

symptoms may have another type of genetic testing called chromosomal microarray, which looks

for microdeletions or microduplications involving the RUNX2 gene, done. If this does not

confirm the disorder but it is still suspected, a karyotype may be considered to look for

rearrangements in genetic material. Some individuals who express symptoms connected to

cleidocranial dysplasia do not have a mutation on their RUNX2 gene! The cause of the disorder

in these individuals is unknown.

Treatments for individuals with cleidocranial disorder vary based on each case. Most

people require dental work due to the various abnormalities and those with low bone density can

be given supplements of calcium and vitamin D along with preventative treatment for

osteoporosis starting at a young age. In the case of frequent ear infections, ear tubes may be

required. Some people have severe defects in the cranial vault – the space in the skull that is

occupied by the brain – must wear helmets during high-risk activities. Since many different

skeletal abnormalities may occur, an individual may require surgery. Due to an individual’s

craniofacial and dental abnormalities, careful planning has to take place when it comes to

anesthetics. There can also be a consultation with an otolaryngologist (surgical subspecialty

dealing with ears, nose, and throat) to help secure airways. Aside from all of these potential

treatments, patients have a normal life expectancy as long as they keep an eye on the condition.

Research for this is being done to try to figure out why some people with cleidocranial

dysplasia do not have a mutation on their RUNX2 gene while others do. Individuals affected by

this who would like to help in the clinical research may register through the International

Skeletal Dysplasia Registry or Greenberg Center for Skeletal Dysplasias, both of which are in

the United States. There are also some research facilities located outside of the United States.
 Works Cited
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