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 Tourette (too-RET) syndrome is a disorder that involves repetitive movements or unwanted sounds (tics) that can't be easily controlled. For instance, you might repeatedly blink your eyes, shrug your shoulders or blurt out unusual sounds or offensive words. Tics typically show up between ages 2 and 15, with the average being around 6 years of age. Males are about three to four times ...
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 ...