Difference between BPES and other syndromes that also have Blepharophimosis

[Guest guest]

Dear new members of the group

I am not medically trained, but as a person with BPES, and through my experience of meeting others with BPES and other syndromes that share some of the same characteristics, I am writing this email.

BPES (sometimes known as BPEI) stands for Blepharophimosis Ptosis Epicanthus Inversus Syndrome. If somebody is diagnosed by a specialist as having BPES, then they are expected to have normal intelligence. (refer to this site http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html)

However, there are many other syndromes that have one or two of the individual characteristics of BPES.

For example, Ohdo Blepharophimosis syndrome has these characteristics:

Blepharophimosis

Blepharoptosis

Mental retardation

Congenital heart defects

Hypoplastic teeth

More info on Ptosis

You may like to look here for more information about Ptosis:

http://www.emedicine.com/ent/topic97.htm

By far the best approach is to get a definite diagnosis from a specialist.

Regards

Shireen