GTR Home > Conditions/Phenotypes > Tuberous sclerosis syndrome

Disease characteristics

Excerpted from the GeneReview: Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas); brain (cortical tubers, subependymal nodules [SENs] and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.

Available tests

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Clinical features

  • Precocious puberty
  • West syndrome
  • Cafe-au-lait spot
  • Cerebral calcification
  • Intellectual disability
  • Achromatic retinal patches
  • Gingival fibromatosis
  • Wolff-Parkinson-White syndrome
  • Subependymal nodules
  • Cortical tubers
  • Renal cyst
  • Hypothyroidism
  • Autism
  • Specific learning disability
  • Subcutaneous nodule
  • Abnormality of the respiratory system
  • Ependymoma
  • Renal cell carcinoma
  • Renal angiomyolipoma
  • Attention deficit hyperactivity disorder
  • Projection of scalp hair onto lateral cheek
  • Astrocytoma
  • Hypomelanotic macules
  • Adenoma sebaceum
  • Shagreen patch
  • Dental enamel pits
  • Subungual fibromas
  • Cardiac rhabdomyoma
  • Optic glioma
  • Chordoma
  • Premature chromatid separation
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