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

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

How is Down Syndrome Diagnosed & Can it be Prevented?

How is Down Syndrome Diagnosed? It is imperative for families who are at risk of having a child with Down Syndrome undergo screening before the...

What is Franceschetti-Jadassohn Syndrome & How is it Treated?

Franceschetti-Jadassohn Syndrome or Naegel Franceschetti-Jadassohn Syndrome (NFJS) was first described in 1927 by Naegeli in a Swiss family and was further analyzed by Franceschetti-Jadassohn...

Deficiency of Interleukin 1 Receptor Antagonist: Symptoms, Causes, Treatment

There are around 7000 different variations of rare genetic disorders that plague a significant percentage of the global population. Approximately 1 out of every...

Alexandria’s Genesis – is it Real?

About Alexandria's Genesis Alexandria's Genesis which is characterized by an individual having eyes that are violet or purple in color is an unusual condition which...

Klinefelter Syndrome: Causes, Symptoms, Treatment, Diagnosis

What is Klinefelter Syndrome? Klinefelter Syndrome is a common genetic condition which affects primarily males in which a boy is born with an extra copy...

Symptoms of Galactosemia in Children & its Treatment

In this article, we will try to understand what galactosemia is, the symptoms and treatment of galactosemia in children. Galactosemia is a condition in...

What is ALAD Porphyria & How is it Treated?

What is ALAD Porphyria? ALAD Porphyria is also known as Aminolevulinic acid dehydratase deficiency porphyria. This is a genetic condition which can exhibit its true...

Fish Odor Syndrome or Trimethylaminuria: Causes, Symptoms, Treatment

What is Fish Odor Syndrome or Trimethylaminuria? Fish Odor Syndrome which is also known by the name of trimethylaminuria is a rare genetic disorder in...

What is Caudal Regression Syndrome or Sacral Agenesis & How is it Treated?

What is Caudal Regression Syndrome or Sacral Agenesis? Caudal regression syndrome or sacral agenesis is a rare congenital disorder which involves the impairment of the...

Sly Syndrome: Causes, Symptoms, Treatment, Life Expectancy, Prognosis

What is Sly Syndrome? Sly Syndrome which is also known by the name of Mucopolysaccharidosis is a progressive congenital disorder which tends to affect almost...
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