McCune–Albright syndrome
ICD-10: Q78.1ORPHA: 562
Overview
rare disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with McCune–Albright syndrome, sourced from HPO and Orphanet clinical annotations.
Ovarian cystPrecocious pubertyLarge cafe-au-lait macules with irregular marginsAbnormal endocrine physiologyAbnormal testis morphologyMacroorchidismRenal tubular dysfunctionAbnormality of the thyroid glandHyperthyroidismGrowth abnormalityScoliosisAbnormal skull base morphologyAbnormal femur morphologyAccelerated skeletal maturationFibrous dysplasia of the bonesMonostotic fibrous dysplasiaAbnormal facial skeleton morphologyIncreased serum testosterone levelRenal phosphate wastingDecreased fertilityAbnormality of the faceFacial asymmetryHearing impairmentDental malocclusionElevated circulating growth hormone concentrationGoiterIrregular menstruationIncreased circulating prolactin concentrationPancreatitisNasal congestionGastroesophageal refluxBone painOsteomalaciaRecurrent fracturesParesthesiaBenign gastrointestinal tract tumorsAbnormal sexual behaviorPolyostotic fibrous dysplasiaHyperplasia of the Leydig cellsHepatocellular adenomaBone fractureVisual lossCholestasisPrimary hypercortisolismPancytopeniaHypophosphatemiaBreast carcinomaHyperphosphaturiaIncreased circulating cortisol levelBone marrow hypocellularityAneurysmal bone cystHepatitisCutaneous myxomaCafé au lait spot
Classification & Codes
ICD-10 Code
Q78.1Orphanet Code
ORPHA:562McCune–Albright syndrome
| ICD-10 | Q78.1 |
| Orphanet | ORPHA:562 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO