Turner Syndrome

Turner syndrome refers to a genetic disorder that is only found in girls. The most common features of people that suffer from the condition are shortness, nonfunctional ovaries, and certain physical characteristics. There is no cure for this ...

Treacher Collins Syndrome

Treacher Collins syndrome is a rare genetic congenital condition that causes abnormal growth of facial tissues and bones. It tends to run in families and gets passed with an autosomal dominant inheritance pattern. Symptoms of Treacher Collins ...

Harlequin Ichthyosis

There are not many diseases or conditions that look more bizarre than Harlequin Ichthyosis.  The Harlequin type of ichthyosis is a severe but very rare genetic skin disorder that gives the affected child exceptionally thick skin that looks ...

Morquio Syndrome

Morquio’s syndrome is a metabolic disorder that is inherited and wherein the body misses or lacks the essential ingredients that are necessary to break down elongated chains of sugar molecules known as glycosaminoglycans. Glycosaminoglycans ...

Ehlers-Danlos syndrome

What is Ehlers-Danlos Syndrome ? The syndrome refers to a group of rare, inherited abnormalities that affect the connective tissues, mainly the joints, skin and the walls of the blood vessels. Collagen is a major constituent of connective tissue. ...

Progeria Pictures, Facts, Symptoms, Treatment

What is Progeria? Progeria is a genetic disorder that is progressive in nature and is characterized by rapid aging of children that usually begins in the first two years of their lives. Progeria is also known as Hutchinson-Gilford progeria syndrome. Children ...

Marfan Syndrome-Pictures, Symptoms, Treatment, Life Expectancy

What is Marfan Syndrome? Marfan syndrome is a genetically inherited disorder that affects the body’s connective tissues. This disorder causes abnormalities on the cardiovascular system, skeletal system, eyes, and the skin of the affected person; ...