Tuberous sclerosis

Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease. [Source: Wikipedia ]

Synonyms
Bourneville disease
TS
OrphaNet reference
Tuberous sclerosis 
May Cause
Advanced bone age
Angiomyolipoma
Arterial aneurysm
Arterial occlusion
Ascites
Basal ganglion calcification
Bilateral large kidneys
Bilateral or multiple cystic renal masses
Body asymmetry
Café-au-lait spots
Cardiac rhabdomyoma
Cardiomyopathy
Cerebral gyriform calcification
Cerebral vasculitis
Chronic Kerley lines
Chylothorax
Chylous ascites
Coarctation of aorta
Congenital brain malformation
Congenital heart disease
Congenital hydrocephalus
Congenital macrocephaly
Congenital renal cystic disease
Congenital widespread osteosclerosis
Congenitally abnormal pelvis
Cortical bone thickening
Dactylitis
Dense or thick skull
Densely sclerotic vertebra
Diffuse interstitial disease with pleural effusion
Ependymoma
Exostosis
Focal vertebral sclerosis
Focally dense calvarium
Gigantism
Globe calcification
Hamartomatosis
Hemimegalencephaly
Hydrocephalus
Hydrops fetalis
Hyperechoic renal mass
Increased risk of neoplasm
Interstitial lung fibrosis
Intracranial calcification
Intraventricular glioma
Intraventricular lesion
Kyphosis
Large kidneys with multifocal masses
Limb asymmetry
Limb overgrowth
Lucent defect in bones of hands, wrists, feet, or ankles
Lytic phalangeal lesion
Lytic skeletal lesion
Macrocephaly
Microcephaly
Miliary lung opacities
Multiple cavitary lung lesions
Multiple intracranial calcification
Multiple nerve tumors
Multiple osteosclerotic bone lesions
Multiple radiolucent bone lesions
Multiple sclerotic foci in an infant or child
Neurocutaneous syndrome
Orbital mass
Osteosclerosis
Periosteal new bone formation in a child
Pleural effusion with disease in thorax
Pneumomediastinum
Pneumothorax
Polyostotic bone lesions in adults
Polyostotic bone lesions in children
Precocious puberty
Predominantly ectodermal phakomatosis
Pseudomacrodactyly
Pulmonary hypertension
Pulmonary lymphangioleiomyomatosis
Renal artery aneurysm or microaneurysm
Renal cystic disease
Scattered decreased and increased bone density
Sclerosis of bone with periosteal reaction
Sclerotic foot bone lesion
Sclerotic hand bone lesion
Skin pigment abnormality
Skin tag
Small kidney
Solitary intracranial calcification
Subependymal signal void
Systemic hypertension
Thick periosteal reaction along bone shaft
Thick ribs
Thick skull
Thyroid dysfunction
Ventricular wall nodule
Widespread cortical bone thickening
Widespread osteosclerosis
Widespread osteosclerosis of medullary and cortical bone
Widespread periosteal reaction
Widespread small irregular lung opacities
Bourneville disease
TS
Advanced bone age
Angiomyolipoma
Arterial aneurysm
Arterial occlusion
Ascites
Basal ganglion calcification
Bilateral large kidneys
Bilateral or multiple cystic renal masses
Body asymmetry
Café-au-lait spots
Cardiac rhabdomyoma
Cardiomyopathy
Cerebral gyriform calcification
Cerebral vasculitis
Chronic Kerley lines
Chylothorax
Chylous ascites
Coarctation of aorta
Congenital brain malformation
Congenital heart disease
Congenital hydrocephalus
Congenital macrocephaly
Congenital renal cystic disease
Congenital widespread osteosclerosis
Congenitally abnormal pelvis
Cortical bone thickening
Dactylitis
Dense or thick skull
Densely sclerotic vertebra
Diffuse interstitial disease with pleural effusion
Ependymoma
Exostosis
Focal vertebral sclerosis
Focally dense calvarium
Gigantism
Globe calcification
Hamartomatosis
Hemimegalencephaly
Hydrocephalus
Hydrops fetalis
Hyperechoic renal mass
Increased risk of neoplasm
Interstitial lung fibrosis
Intracranial calcification
Intraventricular glioma
Intraventricular lesion
Kyphosis
Large kidneys with multifocal masses
Limb asymmetry
Limb overgrowth
Lucent defect in bones of hands, wrists, feet, or ankles
Lytic phalangeal lesion
Lytic skeletal lesion
Macrocephaly
Microcephaly
Miliary lung opacities
Multiple cavitary lung lesions
Multiple intracranial calcification
Multiple nerve tumors
Multiple osteosclerotic bone lesions
Multiple radiolucent bone lesions
Multiple sclerotic foci in an infant or child
Neurocutaneous syndrome
Orbital mass
Osteosclerosis
Periosteal new bone formation in a child
Pleural effusion with disease in thorax
Pneumomediastinum
Pneumothorax
Polyostotic bone lesions in adults
Polyostotic bone lesions in children
Precocious puberty
Predominantly ectodermal phakomatosis
Pseudomacrodactyly
Pulmonary hypertension
Pulmonary lymphangioleiomyomatosis
Renal artery aneurysm or microaneurysm
Renal cystic disease
Scattered decreased and increased bone density
Sclerosis of bone with periosteal reaction
Sclerotic foot bone lesion
Sclerotic hand bone lesion
Skin pigment abnormality
Skin tag
Small kidney
Solitary intracranial calcification
Subependymal signal void
Systemic hypertension
Thick periosteal reaction along bone shaft
Thick ribs
Thick skull
Thyroid dysfunction
Ventricular wall nodule
Widespread cortical bone thickening
Widespread osteosclerosis
Widespread osteosclerosis of medullary and cortical bone
Widespread periosteal reaction
Widespread small irregular lung opacities