McCune-Albright syndrome
Definition
A disorder characterized by abnormalities in bone development, skin pigmentation, and endocrine gland function.
Description
The McCune-Albright syndrome is an uncommon disorder in which a mutation distributed across various cell populations results in a wide variety of clinical features. The most notable features are abnormal bone development, pigmented skin spots, and endocrine gland dysfunction.
Genetic profile
Scientists have identified a specific genetic defect that causes McCune-Albright syndrome. The defect is a mutation in the GNAS1 gene, which is associated with a type of G protein. These proteins are present in a wide...
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