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McCune-Albright Syndrome
Alternate Names : Polyostotic Fibrous Dysplasia
Definition McCune-Albright syndrome is a genetic disease affecting the bones and pigmentation of the skin, which also causes hormonal problems and premature sexual development.
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Overview, Causes, & Risk Factors
The hallmark of McCune-Albright syndrome is premature puberty in the female. Menstrual periods may begin in early childhood, long before the appearance of breast or pubic hair development, which normally occur first. Early sexual development may also occur in males, but this is not as common as in females.
These children have abnormal fibrous dysplasia (abnormal fibrous development) in the bone that can lead to fractures, deformities, and abnormal x-rays. Abnormal bone growth in the skull can lead to blindness or deafness due to "pinched" nerves. Deformities may appear in the facial bones and cause cosmetic problems. In addition, the children have cafe-au-lait spots on their skin, which may be present from birth.
McCune-Albright syndrome is caused by mutations in the GNAS1 gene. It is associated with mosaicism, meaning that the abnormal gene is present in a fraction, but not all, of the patient's cells. This disease is not inherited, it is sporadic. This means that a new mutation of the DNA occurs in the womb during development of the patient. This mutation is not passed on to any children the patient later has.
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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
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• Fibrous Dysplasia
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Tests & Exams
• MRI of the Head
• Prolactin
Other Topics
• Adrenal Glands
• Blindness
• Hearing Loss
Review Date : 11/8/2002
Reviewed By : David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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