Cleidocranial Dysplasia

Cleidocranial dysplasia is a rare birth defect that affects about one in one million people worldwide. It is an inherited autosomal dominant genetic disorder that affects the bones and teeth.

The birth defect causes a short stature with underdeveloped or absent collarbones which will cause narrow, sloping shoulders. A person with this disorder will be able to bring their shoulders together in the front of their body.

An infant will suffer premature closing of the soft spot and delayed closing of the space between the bones in the skull. It is common to have a narrow and irregular shaped pelvis and defects in the chest area. A child's teeth will generally come in late and the lower jaw joints do not usually unite. People with this disorder usually have flat feet, knock knees, scoliosis, wide-set eyes, a flat nose and decreased bone density.

A baby will be diagnosed with this condition based on a physical examination, x-ray and/or genetic studies, which would show an abnormal gene on chromosome 6. There is no treatment for this disorder but dental assessment is recommended.