De Barsy Moens-Diercks syndrome is a rare genetic disorder that affects the body's connective tissue. It is distinguished by short stature, developmental delays, and lax cutis (saggy skin that lacks elasticity). The syndrome is named after Dr. Georges de Barsy, who described the condition for the first time in 1931. It usually affects men and women equally. The severity and specific symptoms of De Barsy Moens-Diercks syndrome Read More
The severe form of the disease is called typical mucolipidosis IV, and the mild form is called atypical mucolipidosis IV. Approximately 95 percent of individuals diagnosed with this condition have the severe form.
The symptoms and physical findings associated with mucolipidosis IV are usually apparent within three to eight months following birth. The first recognized symptoms are usually clouding (opacity) of the cornea and eye movemen Read More