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 ...

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. ...

Fragile X Syndrome

What is Fragile X Syndrome ? It is one of the major types of inherited mental retardation. Fragile X Syndrome is caused due to mutation or alteration of a particular that is passed down in families. Fragile X syndrome tends to affect individuals ...

Goldenhar Syndrome

What is Goldenhar Syndrome ? Goldenhar syndrome is a congenital condition that is characterized by abnormalities if the face, head and spine. Goldenhar syndrome is also referred to as oculoauriculo-vertebral spectrum or oculoauicular dysplasia. Goldenhar ...

Hemolytic uremic syndrome (HUS)

What is Hemolytic uremic syndrome ? Hemolytic uremic syndrome is a disorder that is caused due to anomalous and premature damage of red blood cells. The commencement of this process leads to the passage of large numbers of destroyed red blood ...

Edwards Syndrome

Edwards syndrome is a genetic disorder, in which a person has a third copy of material from chromosome 18, instead of the usual two copies. It is three times more common in girls than boys. The syndrome is caused by the presence of extra material ...

Crouzon syndrome

Crouzon syndrome is a genetic disorder. It is one of many birth defects that results in abnormal fusion between bones in the skull and face. Normally, as an infant’s brain grows, open sutures between the bones, allow the skull to develop ...

Behcet’s Syndrome

Behcet’s syndrome is a rare disease, which causes inflammation of blood vessels. Exact cause for the syndrome is not known. It is believed that an autoimmune disorder might be the cause for this disease. It means, that the immune system, by ...
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