RE: Re: how many documented cases are outthere?

[Guest guest]

Hi again

Just to be clear ... although this group is called "blepharophimosis", it should probably be called "BPES", as nearly everyone in the group either has BPES (or is a parent of a person with BPES).

If you look at the table below, you will see that there are many conditions which have some or all of the BPES characteristics.

When I was doing my calculations, I was trying to figure out how many people have BPES syndrome.

I think it is a good idea if people are encouraged to refer to the syndrome by calling it BPES rather than "bleph". Remember that if you go to an optometrist and say "my child has bleph". They are not going to work out that your child has BPES. Also, if they try and look up "bleph" on the internet, they aren't going to be led to the right articles.

Shireen

Table 2. Overview of Conditions in which Ptosis and/or Blepharophimosis are a Major Feature

Syndrome

Inheritance 1

Characteristics

OMIM

Hereditary congenital ptosis 1 (PTOS1)

AD

Ptosis

178300

Hereditary congenital ptosis 2 (PTOS2)

XL

Ptosis

300245

Ohdo blepharophimosis syndrome

AD 2

Blepharophimosis Blepharoptosis Mental retardation Congenital heart defects Hypoplastic teeth

249620

Michels syndrome

Blepharophimosis Blepharoptosis Epicanthus inversus Ophthalmic anterior segment defects (cornea) Cleft lip/palate Minor skeletal abnormalities

257920

Ptosis with external ophthalmoplegia

AR

Ptosis Ophthalmoplegia Miosis Decreased accommodation Strabismus Amblyopia

258400

Noonan syndrome

AD

Ptosis Short stature Heart defects Blood clotting deficiencies

163950

Marden- syndrome

AR

Ptosis Blepharophimosis Growth retardation Neurological defects (mental retardation, absent primitive reflexes)

248700

Schwartz-Jampel syndrome

Intermittent ptosis Blepharophimosis Telecanthus Cataract Short stature Cartilage and skeletal anomalies Muscle hypertrophy

255800

Dubowitz syndrome

Ptosis Blepharophimosis Lateral telecanthus Short stature Mental retardation Immunological deficiencies

223370

-Lemli-Opitz syndrome

Ptosis Epicanthus Cataract Growth and mental retardation Severe genitourinary Cardiac and gastrointestinal anomalies

270400

Oley & Baraitser 1995 , OMIM1. AD=autosomal dominant; AR=autosomal recessive, XL=X-linked2. Presumed mode of inheritance

Author Information

Elfride De Baere, MD, PhD Center for Medical Genetics Ghent University Hospital Ghent, Belgium

Revision History

8 July 2004 (me) Review posted to live Web site

1 March 2004 (edb) Original submission

ContactGeneTests

Copyright© 1993-2005, University of Washington, Seattle Terms of Use

Funding SupportNational Library of Medicine, NIHNational Human Genome Research Institute, NIH

Sponsoring InstitutionUniversity of Washington Seattle, Washington

From: Dawn Harry [mailto:dharry11@...] Sent: 23 March 2005 03:34blepharophimosis Subject: Re: blepharophimosis Re: how many documented cases are outthere?

It is rare, but not as rare as you might think. I took my daughter to a consultation with a surgeon at Oregon Health Sciences University who said he does about 15 surgeries PER YEAR on blepharophimosis patients. He was clear in stating that he does many more surgeries for congenital ptosis for other reasons...this was specifically for blepharophimosis. Really surprised me!

From: Sharon A <besilly12000@...>Reply-blepharophimosis Date: Tue, 22 Mar 2005 19:14:13 -0800 (PST)blepharophimosis Subject: Re: blepharophimosis Re: how many documented cases are out there?

Considering this is so rare as everyone has said it is ...I would tend to think the number would be much higher ? But I have not a clue. shireenimohandes <andy.bowles@...> wrote:

Hi RobI have been trying to work this out.Have a look at the "Database" section in this site. Gives you some ideas.Based on some other research, I think that 1 in 150,000 have BPES. I have suggested this number to 3 specialist, who all say that it is not an unreasonable estimate.Hope this helps.RegardsShireen> > > Does anyone have any numbers on the amount of BPEI cases, or > surgeries performed so far?