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Start free with EleplanTuberous sclerosis complex
ORPHA:805Disease
Also called Bourneville syndrome · Tuberous sclerosis
What it is
A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.
Key facts
- Prevalence
- 1-9 / 100 000
- Age of onset
- All ages
- 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
Very common80–99%
8Common30–79%
27- Abnormal social behavior
- Aggressive behavior
- Angiofibromas
- Autism
- Autistic behavior
- Cardiac rhabdomyoma
- Chorioretinal hypopigmentation
- Chronic kidney disease
- Confetti-like hypopigmented macules
- Depression
- Epileptic spasm
- Focal-onset seizure
- Hyperactivity
- Impulsivity
- Infantile spasms
- Intellectual disability
- Neurodevelopmental delay
- Pulmonary lymphangiomyomatosis
- Renal cyst
- Repetitive compulsive behavior
- Retinal hamartoma
- Self-injurious behavior
- Shagreen patch
- Skin plaque
- Sleep abnormality
- Specific learning disability
- Status epilepticus
Sometimes5–29%
14- Anxiety
- Attention deficit hyperactivity disorder
- Epidermoid cyst
- Hemoptysis
- Hepatic cysts
- Hypertension
- Noncommunicating hydrocephalus
- Poor speech
and 6 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.
Genes
1 modifying gene — variants that can change how the disease behaves, not cause it
ICD-10 codes
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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