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Start free with EleplanCarney complex
ORPHA:1359Disease
Also called Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome
What it is
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- 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
Common30–79%
17- Atypical nevi in non-sun exposed areas
- Blue nevusDiagnostic criterion
- Cardiac myxomaDiagnostic criterion
- Cutaneous myxoma
- Elevated circulating growth hormone concentrationDiagnostic criterion
- Euthyroid multinodular goiter
- Gonadal neoplasm
- Increased circulating cortisol level
- Increased circulating insulin-like growth factor 1 concentration
- Increased circulating prolactin concentration
- Multiple cafe-au-lait spots
- Multiple lentiginesDiagnostic criterion
- Ovarian cyst
- Pituitary growth hormone cell adenoma
- Sertoli cell neoplasmDiagnostic criterion
- Spotty hyperpigmentation
- Testicular neoplasm
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.
Genes
1 modifying gene — variants that can change how the disease behaves, not cause it
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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