CLEIDOCRANIAL DYSOSTOSIS

WHAT IS IT?

• Also known as Marie-Sainton disease:
• A condition characterized by defective development in the cranial bones and complete/partial absence of the collar bone.

VISUAL DESCRIPTION:

• Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.
• Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles. As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body.

Here is what Individuals with this condition normally appear to look like

OTHER PHYSICAL ABNORMALITIES:

• Affected individuals are often shorter than other members of their family at the same age.
• Many also have short, tapered fingers and broad thumbs; flat feet; bowed legs or knock knees; short shoulder blades; and scoliosis.
• Typical facial features include a wide, short skull; a prominent forehead; wide-set eyes; a flat nose; and a small upper jaw.

OTHER ISSUES C.D. CAUSES:

• Decreased bone density
• Brittle bones (osteoporosis)
• Delayed loss of baby teeth
• Peg-shaped teeth
• Misalignment of jaw
• Extra teeth
• Prone to gum cysts
• Hearing loss from excessive sinus/ear infections
• Delayed development of motor skills
• Intelligence is unaffected

INHERITED HOW?

• The condition is not contagious
• Genetically inherited
• Normally caused by mutation of the RUNX2 gene, but in about 30 percent of people with C.D., no abnormality of the gene has been found.
• So for some individuals with C.D., the genetic cause is unknown

GETTING DIAGNOSED WITH C.D.:

• Professionals will:
• Perform a thorough physical exam
• Evaluate medical and family history
• Laboratory imaging studies
• Genetic testing (if desired)
• Assess risk of other family members

TREATMENTS:

• There is no cure/treatment for C.D.
• Dental care is needed for teeth/jaw deformities
• Supplements of calcium and vitamin D are taken for bone deficiencies
• Ear tubes for frequent ear infections
• Surgery to correct any dangerous bone/skeletal abnormalities.
• That all.

THE END.

CITATIONS:

• “ Dysplasia.” Genetic and Rare diseases.info.nih.gov/diseases/6118/-dysplasia.
• “Cleidocranial Dysplasia - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/cleidocranial-dysplasia.

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