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

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

What is Sakati Syndrome: Causes, Symptoms, Treatment

What is Sakati Syndrome? Sakati Syndrome is a very rare congenital condition which is characterized by the child having an abnormally pointed head as a...

What is Sandhoff Disease & How is it Treated?

What is Sandhoff Disease? Sandhoff Disease is an extremely rare inherited pathological condition which progressively destroys the nerve cells in the brain and the spinal...

Sacral Regression Syndrome: Causes, Symptoms, Treatment, Diagnosis

What is Sacral Regression Syndrome? Sacral Regression Syndrome is a pathological condition in which the lower part of the body is underdeveloped at the time...

Saethre Chotzen Syndrome: Causes, Symptoms, Treatment, Diagnosis

What is Saethre Chotzen Syndrome? Saethre-Chotzen Syndrome is a rare genetic disorder in which there is premature fusion of certain skull bones which results in...

What is Geniospasm & How Long Does an Episode of Geniospasm Last?

What is Geniospasm? Geniospasm is a rare, benign hereditary movement disorder of the mentalis muscle characterized by involuntary, episodic up and down movements (tremors) of...

What is Santavuori Disease: Causes, Symptoms, Treatment, Prognosis Diagnosis

What is Santavuori Disease? Santavuori Disease is an extremely rare pathological condition which belongs to a group of disorders called Neuronal Ceroid Lipofuscinoses. Santavuori Disease...

What is Sialidosis: Causes, Symptoms, Treatment, Diagnosis

What is Sialidosis? Sialidosis is a rare inherited pathological condition which is characterized by metabolic disorder and is caused by deficiency of neuraminidase enzyme. This...

What is Subacute Necrotizing Encephalopathy & How is it Treated?

What is Subacute Necrotizing Encephalopathy? Subacute Necrotizing Encephalopathy which is also known by the name of Leigh Syndrome is an extremely rare genetic condition which...

What is Limb Girdle Muscular Dystrophy & How is it Treated?

What is Limb Girdle Muscular Dystrophy? Limb-Girdle Muscular Dystrophy is not the name of a single disease entity but is a collection of disorders that...

What is Adams-Oliver Syndrome & How is it Treated?

What is Adams-Oliver Syndrome? Adams-Oliver Syndrome is a very rare inherited condition in which there are abnormalities of the scalp along with significant abnormalities of...
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