GENETIC DISORDERS

WHAT IS IT?

• A sex linked disorder
• Deletes part of Chromosome 7, including the gene for elastin
• Unpreventable with no cure, and it is dominant
• Patients will have heart and blood problems as a result of the deletion
• There are prenatal tests (FISH)

What Causes the Syndrome?
The break in the DNA molecule occurs when the sperm or egg is developing. The parent doesn't need to have the syndrome, but it can be passed down. There is usually an unequal recombination during meiosis of the sperm or egg. Anyone can get the syndrome before they are born. About 1/10000 are born with the syndrome.

THE SYMPTOMS

• Various Specific Facial Features
• Blood/Heart Problems
• Very friendly, especially towards strangers
• Great Interest in Music
• Farsighted and Strange Phobias, such as physical contact

THE FUTURE FOR THE PATIENT
Since there is no cure, the patients will always need to be treated with physical therapy throughout their lives' and need constant monitoring. The patient can have children, but the person will normally die from heart failure before they get the chance. There is also a high chance for the syndrome to be passed down to the child. There are several people working for more research on the disorder.

OTHER NAMES

• Beuren Syndrome
• Elfin Facies Syndrome
• Williams-Beuren Syndrome.