What are some bones affected by cleidocranial dysplasia?

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 are the symptoms of Cleidocranial Dysostosis?

Symptoms

  • Ability to touch shoulders together in front of body.
  • Delayed closure of fontanelles (“soft spots”)
  • Loose joints.
  • Prominent forehead (frontal bossing)
  • Short forearms.
  • Short fingers.
  • Short stature.
  • Increased risk of getting flat foot, abnormal curvature of spine (scoliosis) and knee deformities.

Is cleidocranial dysplasia the same as Cleidocranial Dysostosis?

Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together.

What type of mutation is cleidocranial dysplasia?

Cleidocranial dysplasia is usually caused by mutations in the RUNX2 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of teeth, bones, and cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development.

Is cleidocranial dysplasia a harmful mutation?

Individuals with cleidocranial dysplasia have an increased risk for recurrent ear and sinus infections, upper respiratory complications and hearing loss.

Why is the collarbone important?

The clavicle, popularly known as the collarbone, is a part of your shoulder. It is a prominent bone that connects the arm with the rest of the skeleton. Its functions include allowing free movement of the shoulder away from the body. Along with the rib cage, the clavicle helps protect the heart from external trauma.

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.

Is it possible to live without a collarbone?

Some people don’t develop collarbones; they can be born without them, have defective ones, or grow them at an older age. This abnormality is one of the symptoms of a rare disorder known as cleidocranial dysplasia. This condition consists of the malformation, delayed growth, or even absence of some bones and teeth.