Hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is a rare X-linked recessive lysosomal storage disorder with a significantly higher prevalence in males. The estimated incidence is...
What is Pompe Disease?
Pompe disease, also referred to as Glycogen Storage Disease Type II (GSDII), is a rare genetic disorder characterized by muscle wasting...
Dystrophic Epidermolysis Bullosa is a rare hereditary skin disorder that causes the skin, mucous membranes, and nails to become highly fragile. It presents with...
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,...
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...