Craniofrontonasal dysplasia is a rare inherited condition that affects the head and face, hands and feet, as well as some bones. People with this condition tend to have a distinctive facial appearance and an abnormally shaped head.
Craniofrontonasal dysplasia may be caused by mutations or defects in the ephrin-B1 gene (EFNB1), which provides instructions for making the ephrin-B1 protein. This protein appears to be important for normal development of the frontonasal neural crest, which is a structure in a growing embryo that becomes the face and skull. About 73% of people with this condition have this mutation. The cause of craniofrontonasal dysplasia in the remaining cases is unknown.
Craniofrontonasal dysplasia is believed to be inherited, or passed down, in families as an X-linked dominant trait. Females receive one X chromosome from each parent, while males receive one X chromosome from the mother and one Y chromosome from the father. Therefore, males inherit X-linked traits from the mother, while females may inherit X-linked traits from the mother or father. Because craniofrontonasal dysplasia is a dominant condition, only one copy of the defective gene is necessary for the disease to appear.
The exact prevalence of the disorder is unknown, and it is not clear whether any one ethnicity is more affected than another. Craniofrontonasal dysplasia affects more females than males. In addition, symptoms of the disorder are more severe in females than in males.
There is currently no known cure for craniofrontonasal syndrome. Treatment focuses on managing symptoms and preventing complications. Individuals with craniofrontonasal dysplasia are often able to live normal lives.
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