Torticollis keloids cryptorchidism renal dysplasia is a rare genetic disorder. It starts during pregnancy or in infancy. It is inherited in an X-linked pattern. The symptoms predominantly occur in males. Female carriers may possess mild signs of the condition. Each female has two X chromosomes, one from each parent. Males have one X chromosome from mom and one Y chromosome from dad. If a male inherits an X chromosome with the changed (mutated) gene, he will have this condition. A female with the changed gene on one X chromosome may have mild symptoms.
Symptoms of torticollis keloids cryptorchidism renal dysplasia are torticollis, keloids, cryptorchidism, and renal dysplasia. Torticollis is a neurologic (nervous system) movement disorder where the individual has an atypical head and neck position. The head is crooked and unevenly balanced. Keloids, or abnormally tough, raised, and irregularly shaped scars, are most often present on the hands, feet, arms, and legs. Cryptorchidism is undescended testes. This is when the testes of a male infant do not move down into the sac of skin, called the scrotum, before birth. One or both testes can be affected. Renal dysplasia, also known as kidney dysplasia, is when the interior structure of the kidneys fail to develop normally. Cysts (fluid-filled sacs) replace normal kidney tissue. Typically, this only happens to one kidney. Infants with renal dysplasia in both kidneys usually do not survive pregnancy. In some individuals with this condition, there is chronic kidney inflammation (pyelonephritis).
Other symptoms of torticollis keloids cryptorchidism renal dysplasia include a fever, varicose (enlarged and twisted) veins, moles on the skin, and lower than normal sperm count. If you or a family member has been diagnosed with torticollis keloids cryptorchidism renal dysplasia, talk with your doctor about the most current treatment options.
Description Last Updated: Feb 13, 2018