Genetic Disorders

Neurofibromatosis (NF): Complications, treatment and prevention

Definition Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood. Neurofibromatosis Types of Neurofibromatosis The three types of neurofibromatosis are Nf1, …

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Fragile X Syndrome – Risk Factors, Causes and Treatment.

Definition Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Fragile X  syndrome affected boy History In 1943, Martin and Bell showed that a particular form of mental …

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AAA Syndrome: Causes, Symptoms and complications.

Introduction AAA syndrome is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, alacrima and achalasia. Primary adrenal insufficiency or also known as Addison disease, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison …

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