Goldenhar syndrome

Goldenhar syndrome: Congenital malformation of the jaw, cheek and ear associated with vertebral defects. There is deformity of the external ear and abnormal smallness of that half of the face. Coloboma (cleft) of the upper eyelid is frequent. The ear deformities range...

Mayer-Rokitansky-Kuster-Hauser syndrome

Mayer-Rokitansky-Kuster-Hauser syndrome: Also known as MRKH syndrome, a genetic (inherited) condition that results in underdevelopment or absence of the uterus and vagina in females. Since there is no uterus, menstrual bleeding does not occur at puberty, and this may...