Cleidocranial Dysplasia - Symptoms

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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:

  • short, tapered fingers and broad thumbs;

  • short forearms;

  • flat feet;

  • knock knees; and

  • an abnormal curvature of the spine (scoliosis).

Characteristic facial features may include:

  1. a wide, short skull (brachycephaly);

  2. a prominent forehead;

  3. wide-set eyes (hypertelorism); a

  4. flat nose; and a

  5. small upper jaw.

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:

  • delayed loss of the primary (baby) teeth;

  • delayed appearance of the secondary (adult) teeth;

  • unusually shaped, peg-like teeth;

  • misalignment of the teeth and jaws (malocclusion); and

  • extra teeth, sometimes accompanied by cysts in the gums.

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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Comment from: astresg, 45-54 Male (Patient) Published: June 18

The symptoms that I have are as follows: soft spot on top of head, wide nose, frequent ear infections, extra teeth requiring surgical removal, underbite requiring shortening of lower jaw, shoulders further forward than normal, protruding collarbone and shoulder blades, curvature of the spine, short in height, small bone structure, and thin, long fingers.

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