McCune Albright Syndrome

McCune Albright Syndrome

McCune-Albright syndrome (#174800, 20ql3.2, somatic mutation of the GNASI gene (139320), ED). The predominant gender is female

Clinical manifestations

    • Skin – spots like coffee with milk
    • Skeletal
    • Polyostotic fibrous dysplasia
    • Pseudarthrosis
    • Rickets
    • pathological fractures
    • neurological
    • Syringomyelia
    • Arnold-Chiari Syndrome
    • Deafness
    • Blindness
    • Endocrine
    • hyperthyroidism
    • hyperparathyroidism
    • Syndrome Itsenko-Cushing
    • precocious puberty
    • pituitary adenomas
    • Acromegaly and pituitary gigantism
    • Gynecomastia.

Treatment has not been developed. Palliative intervention includes orthopedic correction and administration of calcitonin.


    • Albright syndrome
    • Fibrous dysplasia


See also Albright’s disease

ICD. Q78.1 Polyostotic fibrous dysplasia MIM. Fibrous panostotic dysplasia (139320, 174800,260490)


    • McKeon-Albright syndrome should not be confused

with inherited osteodystrophy of Albright (Albright’s disease)

  • Arnold-Chiari syndrome – a combination of ataxia, nystagmus, cranial nerve palsies and epileptiform seizures, due to congenital displacement of the brain in the caudal direction with its infringement in the foramen magnum
  • Fibrous panostotic dysplasia (#260490, 20ql3.2, GNASI gene mutation, p)
  • Clinically:
  • saddle nose
  • Hyperpigmentation of the skin according to the type of the bank of the Main
  • Myelofibrosis
  • Recurrent hip fractures
  • Reducing the thickness of the cortical layer of the bone and the number of bone trabeculae
  • Laboratory:
  • Increasing the level of alkaline phosphatase
  • Increasing the content of 1,25-(OH)2-vitamin D
  • hypophosphatemia
  • Increasing the concentrations of hydroxyproline and y-carboxyglutamic acid. Literature. Albright F et al: Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases. NewEng. J. Med. 216:727-746; McCune DJ, Bruch H: Progress in pediatrics: osteodystrophia fibrosa. Am. J. Dis. child. 54: 806-848, 1937

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