CHARGE Syndrome

CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births. CHARGE syndrome is most often caused by...

Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of about 50 genetic diseases caused by defects in lysosomal proteins or lysosomal related-proteins, which results in dysfunction of lysosomes. Most LSDs are caused by the genetic absence of a single catabolic enzyme,...

Niemann-Pick Disease

Niemann-Pick disease (NPD) is a group of rare metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms may include lack of muscle coordination, brain degeneration, learning...

Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells. People with this condition have immune systems that do not function properly, leaving the body vulnerable to chronic inflammation and frequent bacterial...

Fragile X Syndrome

Other Names: Marker X syndrome; Martin-Bell syndrome; FRAXA syndrome; Fra(X) syndrome; FXS; X-linked mental retardation and macroorchidism Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and...

Menkes Disease

Other Names: Menkes syndrome; Steely hair disease; Menkea syndrome; Kinky hair disease; Copper transport disease Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive...
  • Sign up
Lost your password? Please enter your username or email address. You will receive a link to create a new password via email.
We do not share your personal details with anyone.