Down syndrome is a genetic condition caused when an unusual cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome. The term "syndrome" refers to a set of symptoms that tend to happen together. With a syndrome, there is a pattern of differences or problems. The condition is ...
Prader-Willi Syndrome Comprehensive Clinic Overview Prader-Willi syndrome is a genetic condition associated with cognitive and behavioral symptoms, delays in development, chronic hunger, and low levels of growth hormone. Babies with Prader-Willi syndrome may appear "floppy" and have difficulty with feeding, often requiring feeding tubes.
Overview Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
Overview DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a condition caused when a small part of chromosome 22 is missing. This deletion causes several body systems to develop poorly. The term 22q11.2 deletion syndrome covers terms once thought to be different conditions. These terms include DiGeorge syndrome, velocardiofacial (vel-oh-cahr-dee-oh-fay-shell) syndrome and other ...
Gilbert syndrome is a harmless liver condition in which the liver doesn't properly process bilirubin. Bilirubin is a substance produced by the breakdown of red blood cells. Gilbert (zheel-BAYR) syndrome is a genetic condition passed down from your parents. You might not know you have Gilbert syndrome until it's discovered by accident, such as when a blood test shows raised bilirubin levels ...