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

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

Hereditary Multiple Osteochondromas: Causes, Symptoms, Treatment, Diagnosis

What Is Hereditary Multiple Osteochondromas? Hereditary Multiple Osteochondromas is an extremely rare genetic pathological condition, the characteristics of which include development of benign bone tumors...

What is Williams Syndrome: Symptoms, Diagnosis, Treatment, Complications

What Is Williams Syndrome? Many people are unaware of this condition and often wonder as to what is Williams Syndrome. Williams-Beuren syndrome, commonly known as...

Acrogeria: Causes, Signs, Symptoms, Treatment, Prognosis, Incidences

What is Acrogeria? If we were to understand the literal meaning of the word it would mean- aging of the tips and that’s exactly what...

Degos Disease

What is Degos Disease? Degos Disease isn’t a disease that you’ve probably heard of unless you have studied it or are a frequent viewer of...

What is Bethlem Myopathy, Know it’s Causes, Symptoms, Treatment, Diagnosis

What is Bethlem Myopathy? Bethlem myopathy is a rare disease affecting the connective tissues and the skeletal muscles causing muscle weakness and joint stiffness. Bethlem...

Abetalipoproteinemia: Causes, Symptoms, Treatment, Diagnosis

What is Abetalipoproteinemia? Abetalipoproteinemia or ABL is a medical condition that obstructs the body from absorbing some dietary fats completely. If it is left untreated,...

What is Hyperostosis Frontalis Interna & How is it Treated?

What Is Hyperostosis Frontalis Interna? Hyperostosis Frontalis Interna is an inherited pathological condition which is characterized by thickening of the frontal bone of the skull....

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

What Is SAPHO Syndrome? SAPHO Syndrome is the name given for a combination of disorders involving the skin, bones, and joints. SAPHO is an abbreviated...

Rett Syndrome: Causes, Symptoms, Treatment, Management, Diagnosis

What is Rett Syndrome? Rett syndrome is a rare, severe neurological disorder that affects mostly girls. It's usually discovered in the first two years of...

What is Pierre Robin Syndrome & How is it Treated?|Causes, Symptoms of Pierre Robin Syndrome

What Is Pierre Robin Syndrome? Pierre Robin Syndrome which is most commonly referred to as Pierre Robin Sequence is a chain of congenital developmental malformations...
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