Genetic Disorders

Schizophrenia

Multifactorial disorder characterized by abnormal behavior, including hallucinations and paranoia; often treated with antipsychotic medication.

Acute Lymphocyte Leukemia (ALL)

Multifactorial condition, usually autosomal dominant, associated with repeated infections and nosebleeds.

Alzheimer’s Disease

Multifactorial disorder, typically autosomal dominant, resulting in progressive decline in memory.

Kearns-Sayre Syndrome

Mitochondrial disorder caused by mutations, resulting in defects in the eye, heart, and brain.

Leber Hereditary Optic Neuropathy

Mitochondrial disorder that leads to progressive vision loss.

Marfan Syndrome

Autosomal dominant single gene mutation on chromosome 15, a connective tissue disease causing heart murmurs, tall stature, long fingers and toes.

Huntington’s Disease

Autosomal dominant single gene mutation on chromosome 4, causing progressive damage to brain cells.

Polycystic Kidney Disease (PKD)

Autosomal dominant/recessive single gene mutation, causing fluid-filled cysts in the kidneys, high blood pressure, and often leading to kidney failure.

Cystic Fibrosis

Autosomal recessive single gene disorder characterized by excessive mucus buildup in the lungs due to a defective CFTR gene.

Phenylketonuria (PKU)

Congenital autosomal recessive disorder that prevents proper processing of phenylalanine, requiring a restricted diet.

Fragile X Syndrome

Genetic disorder caused by multiple repeats of CGG, sex-linked or X-linked, resulting in mental difficulties.

Duchenne Muscular Dystrophy

Sex-linked recessive single gene disorder on the X chromosome that causes progressive muscular weakness.

Hemophilia

X-linked genetic disorder that impairs blood clotting, managed by injecting clotting factor or medications.

Trisomy 18/Edward’s Syndrome

Condition involving three copies of chromosome 18, caused by nondisjunction and influenced by maternal age; most affected individuals die before age 1.

Down Syndrome

Genetic condition caused by trisomy 21, leading to developmental delays and cognitive impairment.

Prader-Willi Syndrome

Disorder caused by a random deletion of chromosome 15, characterized by feeding difficulties and hyperphagia.

Li Fraumeni Syndrome

Hereditary germline dominant mutation that significantly increases the risk of developing cancer.