HomeGenetic Disorders Information Center: List of Different types of Genetic Disorders

Genetic Disorders Information Center: List of Different types of Genetic Disorders

What is Kartagener’s Syndrome & How is it Treated?

Kartagener's syndrome is also called as Primary ciliary dyskinesia (PCD) or Immotile ciliary syndrome. It is a rare hereditary syndrome and affects the airways....

Crouzon Syndrome: Causes, Symptoms, Treatment, Prognosis

What is Crouzon Syndrome? Crouzon Syndrome is a genetic pathological condition in which there is premature fusion of some skull bones. This condition in medical...

Young’s Syndrome: Causes, Symptoms, Treatment, Prognosis, Risk Factors, Complications

Young's syndrome is named after Dr. Donald Young, who first observed the clinical signs of this syndrome in a group of male patients showing...

What is Cockayne Syndrome: Causes, Symptoms, Treatment, Prognosis

What is Cockayne Syndrome? Cockayne Syndrome is an extremely rare disease found in babies where there is impairment of the nervous system along with various...

What is Carney Complex: Causes, Symptoms, Treatment, Prognosis, Pathophysiology

Carney complex is a rare hereditary disorder described by an increased risk of developing several types of noncancerous or cancerous tumors called myxoma in the...

What is Tay-Sachs Disease: Causes, Symptoms, Treatment, Prognosis, Life Expectancy

What is Tay–Sachs Disease? Tay-Sachs Disease is an extremely rare genetic disorder in which the enzyme that breaks down fatty acids in the body is...

Hutchinson–Gilford Progeria Syndrome: Causes, Symptoms, Treatment, Prognosis, Survival Rate

What is Hutchinson–Gilford Progeria Syndrome? Hutchinson-Gilford Progeria Syndrome is an extremely rare genetic disorder which causes children to age rapidly. The first signs of this disorder...

What is Von Willebrand Disease: Types, Symptoms, Causes, Treatment, Pathophysiology, Prognosis

Von Willebrand Disease is the most common hereditary bleeding disorder. It is named after Dr. Erik Willebrand, who first discovered it in the year...

What is McCune-Albright Syndrome & How is it Treated?

McCune-Albright Syndrome is a rare genetic condition in which skin, endocrine tissues and bones get affected. It causes abnormal scarring of bone tissues, often...

What is Kniest Dysplasia: Causes, Symptoms, Treatment, Prognosis

What is Kniest Dysplasia? Kniest Dysplasia is a very rare pathological condition of the musculoskeletal system in which there is abnormal bone growth which causes...
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