Cleidocranial dysplasia

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Cleidocranial dysplasia (pronounced: kly-doh-kra-nee-al dis-play-zhuh) is a rare genetic disorder that primarily affects the development of the bones and teeth.

Etymology

The term "Cleidocranial dysplasia" is derived from the Greek words "kleis" (meaning clavicle), "kranion" (meaning skull), and "dysplasia" (meaning abnormal growth or development).

Definition

Cleidocranial dysplasia is a condition that affects the development of the bones and teeth. People with this condition often have underdeveloped or absent clavicles (collarbones), which allows them to bring their shoulders together in front of their body. They also have a characteristic skull shape due to delayed closure of the cranial sutures, and may have dental abnormalities.

Symptoms

Symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Common symptoms include:

  • Delayed closure of the spaces between the bones of the skull (fontanels)
  • Underdeveloped or absent collarbones (clavicles)
  • Dental abnormalities, such as delayed loss of primary teeth, delayed appearance of secondary teeth, and misaligned teeth
  • Short stature
  • Characteristic facial features, such as a wide, short skull (brachycephaly), a prominent forehead, wide-set eyes (hypertelorism), and a flat nose

Causes

Cleidocranial dysplasia is caused by mutations in the RUNX2 gene. This gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance.

Treatment

Treatment for cleidocranial dysplasia is symptomatic and may include dental care, physical therapy, and, in some cases, surgery to correct bone abnormalities.

Related Terms

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