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Start free with EleplanMcCune-Albright syndrome
ORPHA:562Disease
What it is
A rare mosaic syndrome characterized by the combination of two or more of the following: fibrous dysplasia of bone (FD), hyperpigmented macules, and hyperfunctioning endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, endogenous Cushing syndrome).
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Childhood
- Inheritance
- Not applicable
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
4Common30–79%
14- Abnormality of facial skeleton
- Abnormality of femur morphology
- Abnormality of the skull base
- Abnormality of the thyroid gland
- Abnormal testis morphology
- Accelerated skeletal maturation
- Fibrous dysplasia of the bones
- Growth abnormality
- Hyperthyroidism
- Increased serum testosterone level
- Macroorchidism
- Monostotic fibrous dysplasia
- Renal tubular dysfunction
- Scoliosis
Sometimes5–29%
23- Abnormality of the face
- Benign gastrointestinal tract tumors
- Bone fracture
- Bone pain
- Decreased fertility
- Dental malocclusion
- Elevated circulating growth hormone concentration
- Facial asymmetry
and 15 more in this range
Rare1–4%
12- Aneurysmal bone cyst
- Bone marrow hypocellularity
- Breast carcinoma
- Cholestasis
- Cutaneous myxoma
- Hepatitis
- Hyperphosphaturia
- Hypophosphatemia
and 4 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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