Congenital Bilateral Cataracts

A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.

Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. …

A rare disorder of infancy characterized by marked reduction or absence of megakaryocytes and thrombocytopenia.

A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute…

A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal…

A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. …