Diseases

Cleidocranial Dysplasia

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Cleidocranial dysplasia: a genetic (inherited) disorder of bone development characterized by: absent or incompletely formed collar bones (the "cleido-" part refers to the clavicles, the collar bones) the child with this disorder can bring its shoulders together

SYMPTOMS

Bossing (bulging) of the forehead.
Open skull sutures, large fontanelles.
Hypertelorism.
Delayed ossification of bones forming symphysis pubis, producing a widened symphysis.
Coxa vara can occur, limiting abduction and causing trendelenburg gait.
Short middle fifth phalanges,[14] sometimes causing short and wide fingers.[15]
Vertebral abnormalities.[14]

CAUSES

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. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.