McCune-Albright syndrome

Pathology

• polyostic fibrous dysplasia
• endocrine abnormalities
  • hyperthyroidism
  • thyrotoxicosis
  • hyperparathyroidism
  • Cushing's syndrome
  • precocious puberty
  • acromegaly
  • hyperprolactinemia
  • autonomous ovarian dysfunction
• signal transduction anomaly
  • constitutive activation of Gs-alpha
  • constitutive cAMP elevation

Genetics

• mosacism (GNAS {gsp} 10q13.2, gene for Gs-alpha)

Clinical manifestations

• precocious puberty
• pigmented skin patches (cafe-au-lait spots)
• blindness
• deafness
• facial asymmetry
• symptoms of polyostic fibrous dysplasia

* images

Management

• see fibrous dysplasia

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder syndrome (multisystem disorder)

Additional terms

• fibrous dysplasia

Patient information

McCune-Albright Syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/174800
• OMIM: https://mirror.omim.org/entry/139320