What type of genetic disorder is cleidocranial dysplasia?

Ilana M Ickow, D.M.D., M.S. Cleidocranial dysplasia is a rare genetic condition that affects teeth and bones, such as the skull, face, spine, collarbones and legs. The bones in people with CCD might be formed differently or might be more fragile than normal, and certain bones such as collarbones may be absent.

What causes Cleidocranial Dysostosis?

Causes. Cleidocranial dysostosis is caused by an abnormal gene. It is passed down through families as an autosomal dominant trait. That means you only need to get the abnormal gene from one parent in order for you to inherit the disease.

What are symptoms of cleidocranial dysplasia?

Summary. Cleidocranial dysplasia (CCD) affects the development of the bones, skull, and teeth. Signs and symptoms include underdeveloped or absent collarbones (clavicles), dental abnormalities, and delayed closing of the spaces between the skull bones (fontanels).

What condition does Gaten Matarazzo have?

Matarazzo, 18, lives with a rare genetic condition that has affected the development of his bones and teeth. Called Cleidocranial dysplasia, or CCD, Matarazzo’s condition occurs in one in every million births, and can be inherited or happen due to an arbitrary genetic mutation according to the organization CCD Smiles.

Is cleidocranial dysplasia inherited?

Cleidocranial dysplasia is a rare disorder that is usually inherited as an autosomal dominant genetic trait. Affected individuals can show a wide range of symptoms (variable expression). Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease.

How common is cleidocranial dysplasia?

Cleidocranial dysplasia occurs in approximately 1 per million individuals worldwide.

Is cleidocranial dysplasia fatal?

Cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence.

When is cleidocranial dysplasia diagnosed?

Pre-Birth Diagnosis of Cleidocranial Dysplasia The disorder is usually diagnosed at birth, as the baby’s skeletal structure shows clear abnormalities. However, it is possible to diagnose the disorder even before birth using an ultrasound examination that may show abnormalities in the fetus.

How is cleidocranial dysplasia diagnosed?

Diagnosis. Cleidocranial dysostosis is diagnosed with a physical examination and X-rays of the head, chest and hands. Genetic testing for mutations in the gene that causes the condition, RUNX2, is available but usually isn’t necessary for the initial diagnosis.

Is cleidocranial dysplasia a disability?

Social Security Benefits If you or your dependent(s) are diagnosed with Cleidocranial Dysplasia and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.

Which Stranger Things character is diagnosed with cleidocranial dysplasia?

Minutes into the first episode of the popular Netflix sci-fi series “Stranger Things,” a preteen character named Dustin fends off classmates who are taunting him. “I told you a million times my teeth are coming in. It’s called cleidocranial dysplasia,” Dustin says.

Is cleidocranial dysplasia hereditary?