What is cleidocranial dysplasia?
Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth.
What are the symptoms and signs of cleidocranial dysplasia?
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 (clavicles). As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases the shoulders can be made to meet in the middle of the body. Delayed closing of the spaces between the bones of the skull (fontanels) is also characteristic of this condition. The fontanels usually close in early childhood, but may remain open into adulthood in people with this disorder.
Affected individuals may be 3 to 6 inches shorter than other members of their family, and may have:
Characteristic facial features may include:
Individuals with cleidocranial dysplasia may have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture, at a relatively early age. Women with cleidocranial dysplasia have an increased risk of requiring a cesarean section when delivering a baby, due to a narrow pelvis preventing passage of the infant's head.
Dental abnormalities seen in cleidocranial dysplasia may include:
In addition to skeletal and dental abnormalities, people with cleidocranial dysplasia may have hearing loss and be prone to sinus and ear infections. Some young children with this condition are mildly delayed in the development of motor skills such as crawling and walking, but intelligence is unaffected.
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