Genetic Disorders Information Center


10 Health Benefits of Guanabana Fruit or Graviola (Soursop) & Its Side Effects, Nutritional Facts

10 Health Benefits of Guanabana Fruit or Graviola (Soursop) & Its Side Effects, Nutritional Facts

Guanabana fruit or graviola (soursop) comes from the evergreen tree soursop tree that is extensively found in Mexico, the Caribbean and parts of South America. Learn about the numerous health benefits of guanabana fruit or graviola (soursop), its nutritional facts and side effects.

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3-M Syndrome: Causes, Symptoms, Treatment

3-M Syndrome

3-M Syndrome is a very rare congenital pathological condition which is characterized by extremely low birth weight of the infant, extremely short stature, craniofacial abnormalities, and certain skeletal abnormalities. Know the causes, symptoms, treatment and diagnosis of 3-M syndrome.

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4 Common Genetic Brain Disorders & Its Treatment

4 Common Genetic Brain Disorders & Its Treatment

Any genetic disorder is a disease that is caused due to different forms of a gene, called a variation, or due to a change in a gene, known as a mutation. Genetic brain disorders are the disorders which affect the development and function of the brain specifically. Some of the genetic brain disorders include leukodystrophies, phenylketonuria, Wilson disease and Tay-Sachs disease, know their symptoms and treatment.

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Abetalipoproteinemia: Causes, Symptoms, Treatment, Diagnosis

Abetalipoproteinemia

Abetalipoproteinemia or ABL is a medical condition that obstructs the body from absorbing some dietary fats completely. If it is left untreated, it causes vitamin deficiency that can affect your health. Abetalipoproteinemia is a gene related problem. People affected with abetalipoproteinemia experience muscle weakness, difficulty in walking, neurological deterioration, loss of vision and blood abnormalities. Treatment for this disorder is available and doctors can help to regain vision, mental clarity, and muscle function.

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

Acrogeria

Acrogeria is one of the very few premature aging diseases that are present in the patients congenitally and it affects the skin on the hands and legs. As with most of these extremely rare disorders, the exact cause of Acrogeria is unknown but from the studies, the disease is shown to have genetic causes but not familial ones. As of now, there is no known treatment for Acrogeria. However, this isn’t a major problem considering that Acrogeria has an excellent prognosis.

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Adrenoleukodystrophy: Types, Causes, Symptoms, Treatment, Prognosis

Adrenoleukodystrophy

Some of the other names for Adrenoleukodystrophy are adrenomyeloneuropathy, childhood cerebral ALD, and Schilder-Addison complex. There are basically three types of Adrenoleukodystrophy. Know the causes, symptoms, treatment and prognosis of Adrenoleukodystrophy.

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Aicardi Syndrome: Causes, Symptoms, Treatment, Life Expectancy

Aicardi Syndrome

Aicardi Syndrome is an extremely rare genetic condition which hampers the development of Corpus Callosum in the brain. Since Aicardi Syndrome is almost always seen in girls hence the mutation is believed to take place in the X chromosome. Know the causes, symptoms, treatment and life expectancy.

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Alexander Disease: Causes, Symptoms, Treatment, Life Expectancy

Alexander Disease

In majority of cases, Alexander Disease begins by the time a child reaches 2 years of age. This is called as infantile form of Alexander Disease. In some cases, Alexander Disease strikes when the child is a bit older. This is called juvenile form of Alexander Disease and is quite rare. Know the causes, symptoms, treatment and life expectancy of Alexander Disease.

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Alexandria’s Genesis – is it Real?

Alexandria’s Genesis – is it Real?

Alexandria’s Genesis which is characterized by an individual having eyes that are violet or purple in color is an unusual condition which is thought to be caused due to a genetic defect. Is Alexandria’s Genesis real, know its causes and symptoms.

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Alkaptonuria: Causes, Disease Mechanism, Symptoms, Diagnosis, Treatment, Prevention

Alkaptonuria

Treatment of Alkaptonuria aims at reducing the pigment deposition, which is responsible for further complications. Know its causes, disease mechanism, symptoms, diagnosis, treatment, prevention.

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Alpers’ Disease: Causes, Symptoms, Treatment, Survival Rate, Pathophysiology, Complications

Alpers’ Disease

Alpers’ Disease is a progressive condition which causes degeneration of the central nervous system, especially degeneration of the gray matter. Alpers’ Disease is a genetic mutation-related disorder in which the POLG gene gets mutated. Know the causes, symptoms, treatment, survival rate, prognosis, pathophysiology and complications of Alpers’ Disease.

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Apert Syndrome: Treatment, Prognosis, Life Expectancy, Causes, Symptoms, Epidemiology

Apert Syndrome

The Apert syndrome is a congenital disorder that is a form of acrocephalosyndactyly. The term “acrocephalosyndactyly” refers to the peaked head shape that is common in every patient suffering from Apert syndrome.

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Are Bone Spurs Genetic?

Are Bone Spurs Genetic?

By definition, a bone spur is a result caused due to excessive bone tissue formed around a damaged joint. Due to the genetic variations in parents and ancestors, there is a likelihood of the occurrence of a bone spur at the time of birth. Although it may not occur directly, it does develop in different forms that affect the spinal cord, which eventually leads to the development of the bone spur.

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Ataxia-Telangiectasia or Louis-Bar Syndrome

Ataxia-Telangiectasia or Louis-Bar Syndrome

As of now, there is no definitive cure for Ataxia-Telangiectasia or Louis Bar Syndrome. The physician basically provides supportive treatment and it is aimed at controlling the symptoms and preventing complications.

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Bardet-Biedl Syndrome (BBS): Causes, Symptoms, Diagnosis, Treatment, Prognosis

Bardet-Biedl Syndrome (BBS)

Learn more about Bardet-Biedl Syndrome (BBS), Possible Causes, Symptoms, Diagnosis, Treatment, Prognosis.

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