McCune-Albright syndrome
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General
McCune–Albright syndrome is a disorder that includes abnormalities of skin pigmentation, a genetic defect affecting the skeletal system, and, finally, hormonal instability (endocrine dysfunction) causing precocious puberty.
It was first described in 1937 by James Donovan McCune and Fuller Albright.
McCune–Albright syndrome has different levels of severity. These levels differ from each other in the degree of individual impairments. For example, in some patients, hormonal disorders or skeletal abnormalities may not be present.
Diagnosis
Since this is a hereditary disorder, diagnosis consists of physical findings with confirmation of positivity by genetic testing.
Treatment
Treatment of this disorder is exclusively symptomatic, individual, and depends on the degree of severity.
- frequent bone fractures
- bone deformities of the legs
- deformities of the humerus
- skull deformities
- pigmented skin spots
- precocious puberty
- accelerated growth
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