Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenit  Read More

Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenit  Read More

A rare condition known as uroporphyrinogen decarboxylase deficiency is characterized by painful, blistering skin lesions that appear on skin exposed to the sun (photosensitivity). After minimal trauma, the fragile skin of the affected area may peel or blister. The liver may also exhibit abnormalities. Low levels of the enzyme uroporphyrinogen decarboxylase are the cause of PCT (UROD). Signs and Symptoms of uroporp  Read More