Rubinstein-Taybi Syndrome

Recommended for Testing

Submitted by Lorrie Baxter

President United States Parents Group

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At the 98 conference, recommendation were made of what needed to be done after a diagnosis of RTS is given in covering the medical issues that some of the children have. The following areas were covered:

  1. Undescended testicles in the males – orchipexy should be done as soon as possible.
  2. Kidney & bladder tests should be done to check for reflux or any defects.
  3. An MRI for Tethered Spinal Cord is now recommended. An Ultrasound may be done before 1 year of age. New advances with the MRI allows them to see the spinal cord move during the MRI, creating a better picture. If any parent should notice complaints from their older child on leg aches, regression in bowel/bladder control, more walking difficulties, they should consult with pediatric orthopedics to have an MRI if one has not been done in the past to check for the Tethered Spinal Cord.
  4. Onset of puberty and growth also can make the orthopedic problems of walking, scoliosis, knee problems, and hip problems worse.
  5. A complete cardiac exam needs to be done as well as pulmonary tests.
  6. Anytime surgery or anesthetics will need to be used, an Anesthesia Consult is recommended because of possible tracheal collapse, cardiac arrhythmias, or refluxing.
  7. An eye exam is recommended at birth and regularly from there on by a pediatric optholmologist because of the high frequency of eye problems in RTS.
  8. Pediatric Dental visits need to be started as early as possible.
  9. If GE reflux is present or suspected, tests should be done to determine the extent of problem. It is recommended to have a PH test done, an endoscopy, & testing for the reflux and associated esophagitis.
  10. Corrections should be done to alleviate the problems with the thumbs and toes, depending on the extent of the defect and how the child can use them without surgery.

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