Glossary

# 22q13.3 deletion syndrome: Another name for Phelan McDermid Syndrome. PMS occurs due to a loss of a region labeled q13.3 on chromosome 22.
Angiomyolipomas (AMLS): Tumor-like lesions composed of blood vessels, smooth muscle, and adipose tissue that occur in the kidneys of adult patients.
Café-au-lait spots: Birthmark on skin that is coffee-colored.
Cardiac rhabdomyomas: Benign heart tumors that are found in up to two-thirds of patients with TSC. Cardiac rhabdomyomas may develop prenatally and can be used as an early detection of TSC.
Chromosomal microarray analysis: A type of genetic testing that looks for duplicate of deleted chromosomal pieces.
Chromosome: Composed of DNA molecules (genes) that help make up organisms
Cortical tubers: Collection of abnormally sized neurons and their supporting cells.
De novo: A gene change that is present for the first time in a family member due to a genetic mutation in one of the reproductive cells of a parent or in the fertilized egg.
Facial angiofibromas: Characteristic skin lesions that typically occur over the nose, cheek, and chin. Can appear as flesh-colored or red papules.
Forehead plaque: Raised, discolored, and sometimes hard areas on the forehead.
Hamartomas: Benign masses of abnormally developed tissue.
Hydrocephalus: Swelling of the brain that requires immediate neurosurgical intervention caused by a blockage in cerebrospinal fluid circulation throughout the ventricles of the brain.
Hypomelanotic macule: White skin patches that occur all over the body and may be more easily detected with a Wood’s lamp.
Hypotonia: Low muscle tone that is associated with reduced strength.
Infantile spasms: A type of epilepsy that occurs in about one-third of patients with TSC. The peak onset is at 4-6 months and are characterized by brief but often repetitive, muscle contraction involving the head, trunk and extremities.
Lymphangioleiomyomatosis (LAM): Pulmonary involvement is rare, seen exclusively in women around the age of 30. Seen as an overgrowth of abnormal muscle-like cells in the lungs and can result in difficulty breathing, chest pain, and coughing.
Magnetic resonance imaging (MRI): Noninvasive imaging is used to see different features of the body and brain.
Mutation: A permanent change in DNA.
Neurocognitive: A descriptive term for brain functions relating to thinking processes.
Periungual fibroma: A benign tumor that occurs on the fingernail or toenail.
Retinal achromatic patch: Hypopigmented patch in the back of the retina.
Retinal hamartomas: Elevated mulberry or plaque-like lesions in the retina.
Shagreen patch: Flesh-colored and dimpled, resembling an orange peel, skin patch found on the lower back.
SHANK3 gene: A gene that encodes for a master scaffolding protein involved in synaptic functioning.
Subependymal giant cell astrocytomas (SEGAs): Tumor-like lesions in the brain that have grown and if left untreated, can cause hydrocephalus.
Subependymal nodules (SENs): Benign, non-growing lesions found along the wall of the lateral ventricles in the brain.
TSC1 gene: The tuberous sclerosis 1 gene is a tumor suppressor gene that produces a product called hamartin, which interacts with tuberin (the product of the TSC2 gene). This forms a complex and plays a role in cell growth and division.
TSC2 gene: The tuberous sclerosis 2 gene produces the protein tuberin, which interacts with hamartin (the product of the TSC1 gene) and is thought to function as a tumor suppressor gene.
Ungual fibroma: A benign tumor that occurs on the fingernail or toenail.
Wood’s lamp: Lamp is used to detect various skin conditions through ultraviolet radiation.