Conditions / Syndrome
McCune Albright syndrome
info · Syndrome · ICD-10: Q78.1
A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
Signs and symptoms
- Bone pain
- Polyostotic fibrous dysplasia
- Sclerotic ilium
- Hyperthyroidism
- Large cafe-au-lait macules with irregular margins
- Hearing impairment
- Pituitary adenoma
- Increased circulating prolactin concentration
- Intestinal polyposis
- Craniofacial hyperostosis
Also known as: fibrous dysplasia of bone; osteitis fibrosa disseminata; polyostotic fibrous dysplasia