Is there treatment for Emanuel syndrome?

There is no cure for Emanuel syndrome, but there are many things we can do to help our children be the best that they can be. Some parents have asked if there is gene therapy to help our children, and unfortunately, there is not. Our children have many extra genes in every cell that affects how they develop and learn.

Does Emanuel syndrome impact life expectancy?

There are individuals with Emanuel syndrome currently living who are into their 30s. We don’t have information on the average lifespan of an individual with Emanuel syndrome. It really depends on a number of things, most important being the severity of any birth defects.

Is there a cure coming soon for Klinefelter syndrome?

Treatments for Klinefelter syndrome There’s no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary.

What are the chances of having a child with Klinefelter syndrome?

It is estimated that 1 in every 500 to 1,000 newborn males has an extra X chromosome, making Klinefelter syndrome one of the most common chromosomal disorders seen among newborns. Variants of Klinefelter syndrome (such as 48,XXXY, 49,XXXXY) are much rarer, occurring in 1 in 50,000 to 1 in 85,000 or fewer newborns.

What are the health problems of Emanuel syndrome?

Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 that introduces extra genetic material in the form of the der (22) chromosome. This extra genetic material causes birth defects and the other health problems characteristic of this disorder. Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM.

Why do people with Emanuel syndrome have three copies of each gene?

As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to the characteristic signs and symptoms of this disorder.

Which is an example of dysmorphic features of Emanuel syndrome?

Examples of dysmorphic features common in babies with Emanuel syndrome are deep-set eyes, low-set and malformed ears, ear pits or tags, a long upper lip (philtrum), a small chin (micrognathia) and excess skin at the back of the neck.