Mayer-Rokitansky-Kuster-Hauser Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare syndrome of unknown cause that occurs in females. It is characterized by underdeveloped or absent vagina and uterus in an otherwise phenotypically normal female with a normal 46,XX karyotype. Other abnormalities include unilateral renal agenesis, skeletal abnormalities, hearing loss, and heart defects.

**Synonyms:** - MRKH - MRKH Syndrome - Mullerian Aplasia/Dysgenesis