RTS

WHAT IS THE NAME OF THE DISORDER?

• Rubinstein–Taybi syndrome (RTS)
• Also known as broad thumb-hallux syndrome or Rubinstein syndrome

Who discovered the disease?

• In 1963, Jack Herbert Rubinstein
• Hooshang Taybi described a larger series of cases
• Both last names make up the name of syndrome

What is the current status of research for the disease?

• Found symptoms, tests, diagnosis and which chromosome it occurs in
• Haven't found a treatment for it, but can do surgery to repair bones/skin.

What are the signs and symptoms of the disorder?

• Broad thumbs and broad first toes
• Mental disability
• Small height, bone growth, small head
• Cryptorchidism in males
• Unusual faces involving the eyes and nose

WHAT BODY SYSTEMS ARE AFFECTED BY THIS DISORDER?

• Abnormalities of the patient's eyes
• Cardiovascular system
• Musculoskeletal system
• Respiratory system

How does a person receive the disorder?

• Most cases are sporadic (not passed down through families)
• Likely due to a new genetic defect that occurs while the baby grows in the womb(not passed down)
• Therefore I would consider it to be a mutation in a gene

WHAT TYPES OF TREATMENTS ARE GIVEN FOR THIS DISORDER?

• There is no specific treatment for RTS syndrome
• Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort

MLA Bib

• "Rubinstein–Taybi Syndrome." Wikipedia. Wikimedia Foundation, 13 Dec. 2013. Web. 13 Dec. 2013. WebsiteLinkTagsEditDelete
• "Rubinstein-Taybi Syndrome: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 13 Dec. 2013. WebsiteLinkTagsEditDelete
• "Rubinstein-Taybi Syndrome." - Genetics Home Reference. N.p., n.d. Web. 13 Dec. 2013.