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Cleidocranial Dysplasia
Cleidocranial Dysplasia
Cleidocranial Dysplasia
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.
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
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
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
cleidocranial dysplasia do not have a mutation on their RUNX2 gene! The cause of the disorder
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
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
“Cleidocranial Dysostosis - Conditions - GTR - NCBI.” National Center for Biotechnology
Information, U.S. National Library of Medicine,
www.ncbi.nlm.nih.gov/gtr/conditions/C0008928/.
“Cleidocranial Dysplasia - Genetics Home Reference.” U.S. National Library of Medicine,
National Institutes of Health, ghr.nlm.nih.gov/condition/cleidocranial-dysplasia#genes.
“Cleidocranial Dysplasia - Genetics Home Reference.” U.S. National Library of Medicine,
National Institutes of Health, ghr.nlm.nih.gov/condition/cleidocranial-
dysplasia#statistics.
“Cleidocranial Dysplasia.” Genetic and Rare Diseases Information Center, U.S. Department of
Health and Human Services, rarediseases.info.nih.gov/diseases/6118/cleidocranial-
dysplasia.
“Cleidocranial Dysplasia: Get Facts on Treatment.” MedicineNet,
www.medicinenet.com/cleidocranial_dysplasia/article.htm.
Machol, Keren. “Cleidocranial Dysplasia Spectrum Disorder.” GeneReviews® [Internet]., U.S.
National Library of Medicine, 16 Nov. 2017, www.ncbi.nlm.nih.gov/books/NBK1513/.
The Editors of Encyclopædia Britannica. “Cleidocranial Dysostosis.” Encyclopædia Britannica,
Encyclopædia Britannica, Inc., 18 Oct. 2013, www.britannica.com/science/cleidocranial-
dysostosis.