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…
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…
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…
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…
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…
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…
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…
Alagille syndrome
Alagille syndrome is a genetic disorder that affects the liver, heart, kidneys, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early…
Klippel -Trenaunay syndrome
Klippel-Trenaunay syndrome is an uncommon vascular disease that is present from birth and which a limb may display port wine stains, excessive growth of soft tissue or bone and varicose…
Klippel-Feil syndrome
Klippel-Feil syndrome is an uncommon condition that is present from birth and which features the fusion of any two of the seven cervical vertebrae. It can be said that Klippel-Feil…