McKusick Kaufman Syndrome

McKusick-Kaufman syndrome is a rare inherited birth disorder. The disorder causes fluid to build up in the vagina and uterus of a female infant, as well as extra digits and heart abnormalities.

Common symptoms of the disorder include respiratory complications, abdominal masses, blockages in the intestines and urinary tract and circulatory obstructions. It is common for a female to experience an imperforate hymen, missing vagina, breast swelling and milk production.

Males will often have a very small penis and undescended testicles. Other signs of the disorder include an abnormally developed pituitary gland, skeletal abnormalities, enlarged intestines and hydrops fetalis. A diagnosis can be made after birth during a physical examination.

Immediate treatment is necessary because some of the symptoms can become life threatening, such as hydrops fetalis. Surgery is recommended to treat any complications that arise due to the disorder.