Genetics and Birth Defects
Neurological Disorders
Huntington Disease
Huntington disease (HD) is a genetic disorder in which nerve cells in certain parts of the brain waste away, or degenerate.
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) is a group of genetic conditions that affect the nerves connecting the brain
Friedreich Ataxia
Friedreich ataxia is a rare disease passed down through families (inherited). It affects the muscles and heart.
Tuberous Sclerosis
Tuberous sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, heart, and lungs.
Friedreich Ataxia
Friedreich ataxia is a rare disease passed down through families (inherited). It affects the muscles and heart.
Ataxia Telangiectasia
Ataxia-telangiectasia (A-T) is a rare genetic condition that affects the function of the nervous system.
Cerebral Palsy
Cerebral palsy (CP) is a group of neurologic disorders that cause problems with movement, balance, and posture.
Neurofibromatosis
Neurofibromatosis is a genetic condition that affects your nervous system (brain, spinal cord and nerves) and skin.
Tourette Syndrome
Tourette syndrome is a condition that causes a person to make repeated, quick movements or sounds that they cannot control.
Muscloskeletal & Sensory Disorders
Genetic Syndromes
Down Syndrome
Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.
Turner Syndrome
Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing.
Klinefelter Syndrome
Klinefelter syndrome is a common condition that results when a person assigned male at birth has an extra copy of the X sex chromosome.
Rett Syndrome
Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops.
Prader-Willi Syndrome
Prader-Willi (PRAH-dur VIL-e) syndrome is a rare genetic condition that leads to physical, mental and behavioral problems.
Usher Syndrome
Usher syndrome is a rare inherited disorder that causes vision loss, hearing loss and, sometimes, balance issues.
Ehlers-Danlos Syndromes
Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions that affect connective tissue.
Von Hippel-Lindau Disease
People with von Hippel-Lindau disease (VHL) have an increased risk of having cancerous and noncancerous tumors
Fragile X Syndrome
Fragile X syndrome is the leading cause of inherited intellectual disabilities. There are behavioral, physical and intellectual.
Dwarfism
Dwarfism is short stature that results from a genetic or medical condition. Stature is the height of a person in a standing position.
Fetal Alcohol Spectrum Disorders
Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person exposed to alcohol before birth.
Hemophilia
Hemophilia is usually an inherited bleeding disorder in which blood does not clot properly.
Hemophilia
Sickle Cell Disease
Sickle cell disease is the name for a group of inherited health conditions that affect the red blood cells.
Sickle Cell Disease
Hemochromatosis
Haemochromatosis is an inherited condition where iron levels in the body slowly build up over many years.
Hemochromatosis
Blood Disorder
