Meet the Guide Editor
Message from the Editor:
As a chemist, I am interested in DNA and its role in heredity, as well as what occurs if DNA is damaged.
Rare Genetic Disorder Contributors

Guide to Rare Genetic Disorders and their Treatment

A rare genetic disorder is a hereditary disorder, generally affecting fewer than one in a million inhabitants—specifically gene-related. Genetic disorders are sometimes sex-linked, involving the X-chromosome.

Rare genetic disorders are often incurable, and because of the limited number of cases, make study difficult. Still, most of them can be managed to allow a full life if the sufferer receives careful medical management. A single genetic disorder may produce a fairly large variety of symptoms. Knowledge of the symptoms can lead to early treatment. Learn more about genetic disorders and mutations through articles written by Bright Hub contributors.

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Gene - Courtesy National Institute of Mental Health

Latest Articles on Rare Genetic Disorder
A Guide to Cerebrocostmandibular Syndrome

If you want to understand the various aspects of the cerebrocostomandibular syndrome in a simplified manner, then read on, as this article will provide you with an overview of this...

 Genetics of Job Syndrome

If you suspect Job syndrome or have a family history of this genetic disorder, it is important to learn more about it. Read on to learn more about the genetics of the disorder, as well...
A Guide to Aicardi Syndrome

Aicardi syndrome is a rare genetic disorder affecting only girls.Even though the exact genetic cause is not yet known, there are strong clues, which are currently researched further...

 Skin Disorder: Incontinentia Pigmenti

Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome is a rare genetic disorder that's characterised by a discolouration of the skin. It's an X-linked dominantly...
Most Popular Articles on Rare Genetic Disorder
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    		 Information on Ataxia Telangiectasia

    Ataxia Telangiectasia is a progressive neurological disorder in which patients experience balance and coordination problems since the cerebellum and the cerebrum are the primary affected brain parts. Physical...
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    		 What is Amelogenesis Imperfecta?

    Amelogenesis imperfecta is a rare genetic disorder that causes the teeth to be small and abnormal in colour. They are also more prone to dental cavities. The condition can strike any number of teeth and...
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    		 Joubert Syndrome Overview

    Joubert syndrome, a rare genetic disorder, primarily affects the development of the brain. This article briefly discusses the symptoms, genetics, diagnosis, prevalence and treatments for this disorder...
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    		 What is Progeria?

    Progeria is a rare genetic disorder where the affected individual appears to age rapidly. It is estimated that one in four million children are affected and currently there is no known cure....
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    		 The Genetics of Progeria

    Progeria, a rare genetic disease, appears at an early age. Children with Progeria may look older and develop diseases associated with old age. The genetics of progeria has shown that a single mutation...
More About Rare Genetic Disorder
Kartagener’s Syndrome: A Rare Genetic Disorder

Kartagener’s syndrome is a rare genetic disorder also known as PCD. What causes it? What are the symptoms? How is PCD treated? Find out below....

 Fibrodysplasia Ossificans Progressiva: A Rare Genetic Disorder

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder that affects approximately 1 in 2 million people. It's a condition whereby the body grows an extra...