Genetic disorders

Dystrophic Epidermolysis Bullosa: A Rare Skin Disorder

Dystrophic Epidermolysis Bullosa is a rare hereditary skin disorder that causes the skin, mucous membranes, and nails to become highly fragile. It presents with marked blistering and scarring all...

Ichthyosis Vulgaris: Symptoms, Causes & Treatment

What is Ichthyosis Vulgaris? Ichthyosis is a skin disease that has many variants. The term "ichthyosis" is derived from...

Fabry Disease: Insights into a Rare Condition

Fabry disease is a type of lysosomal storage disease. It is a rare condition in which the body...

DiGeorge Syndrome: A Closer Look

What is DiGeorge Syndrome? DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disease that is...

Crigler Najjar Syndrome: Understanding a Rare Condition

Crigler Najjar syndrome is an inherited disorder in which genetic abnormality causes a poor function of enzymes involved...

Dystrophic Epidermolysis Bullosa: A Rare Skin Disorder

Dystrophic Epidermolysis Bullosa is a rare hereditary skin disorder that causes the skin, mucous membranes, and nails to become highly fragile. It presents with...

Ichthyosis Vulgaris: Symptoms, Causes & Treatment

What is Ichthyosis Vulgaris? Ichthyosis is a skin disease that has many variants. The term "ichthyosis" is derived from the Greek word "ichthys," meaning fish,...

Fabry Disease: Insights into a Rare Condition

Fabry disease is a type of lysosomal storage disease. It is a rare condition in which the body does not make enough of an...

DiGeorge Syndrome: A Closer Look

What is DiGeorge Syndrome? DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disease that is present from birth. The main reason...

Crigler Najjar Syndrome: Understanding a Rare Condition

Crigler Najjar syndrome is an inherited disorder in which genetic abnormality causes a poor function of enzymes involved in bilirubin processing, and it leads...