Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome with highly distinctive clinical features and associated mental retardation. It was first described in 1977 by Pallister ...
Today: What is Mosaic Down syndrome? Parents share what life is like
Emma McLean is a 6-year-old girl who loves Taylor Swift, reading books, playing the drums and hanging with her little sister. While Emma has Down syndrome — specifically a rare type called Mosaic Down ...
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.