Re: Difference between BPES and Ohdo (and other syndromes)

[Guest guest]

OK this scares me 1/2 to death ...my 13 yr old has no ennamul on his teeth and they are all discolored which in fact can be related to bleph............going to go to a genetics dr on this ..thanks ......so scary that is could be worse than i thought Andy Bowles & Shireen Mohandes <andy.bowles@...> wrote:

Hi

For the avoidance of doubt, you may like to see how the medical profession define BPES, Ohdo, and other syndromes.

I hope that this information helps. There is a group for Ohdo Syndrome. My friend Pat Seville has set up that group and runs it.

Regards

Shireen

--------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------

(BPES is an Acronym for: Blepharophimosis, Ptosis, Epicanthus inversus.)

BPES

Disease characteristics. Classic blepharophimosis syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Two types of blepharophimosis syndrome have been described: BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF); BPES type II includes only the four major features. Other ophthalmic manifestations associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic disease-causing mutation are expected to have

normal intelligence.

Clinical Diagnosis

The diagnosis of blepharophimosis syndrome (BPES) is based primarily on four clinical findings, which are present at birth [Oley & Baraitser 1995]:

Blepharophimosis: Narrowing of the horizontal aperture of the eyelids. In normal adults, the horizontal palpebral fissure measures 25-30 mm; in individuals with BPES, it generally measures 20-22 mm. Ptosis: Drooping of the upper eyelid causing a narrowing of the vertical palpebral fissure. In individuals with BPES, ptosis is secondary to dysplasia of the musculus levator palpebrae superioris. To compensate for the ptosis, affected individuals:

Use the musculus frontalis, wrinkling the forehead to draw the eyebrows upward, which results in a characteristic facial appearance

Tilt their head backward into a chin-up position

Epicanthus inversus: A skinfold arising from the lower eyelid and running inwards and upwards. Telecanthus: Lateral displacement of the inner canthi with normal interpupillary distance.

Two types of blepharophimosis syndrome have been described [Zlotogora et al 1983]:

BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF). BPES type II includes only the four major features.

--------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------

Now, here is some info about Ohdo (it is not an acronym, it is named after a doctor called "Mr Ohdo".)

As you can see, in many cased each of the syndromes listed below has only 1 or 2 of the main characteristics of BPES.

---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------

Table 2. Overview of Conditions in which Ptosis and/or Blepharophimosis are Prominent Features

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 Neurologic 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 Immunologic 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<a href="http://www.TickerFactory.com/"><img border="0" src="http://www.TickerFactory.com/ezt/d/1;14;11/st/20050609/k/3901/preg.png"></a>

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[Guest guest]

Hi,

That's interesting. My 13-yr-old also has dodgy tooth enamel

(Hypocalcification?). His bleph is very mild, but he was born with a

congenital sliding hiatus hernia, and we always assumed his enamel

problems were a result of his failing to thrive and/or having a

soy-based formula and/or stomach acid interfering with his teeth

somehow. But we might have been on the wrong track all along. Hmmm...

Rob W

Sharon A wrote:

> OK this scares me 1/2 to death ...my 13 yr old has no ennamul on his

> teeth and they are all discolored which in fact can be related to

> bleph............going to go to a genetics dr on this ..thanks

> ......so scary that is could be worse than i thought

[Guest guest]

Hi Sharon

You are, of course, right about most doctors not knowing. That is something which is not unexpected as BPES not common (I think it is about 1 in 150,000). I think the key thing is to put all of our efforts into seeing the right doctor.

I know that in England, the recommended process is this:

1. Ask your GP (general practitioner) to get you referred to

- a genetics counsellor.

- Moorfields Eye Hospital

2. The genetics counsellor will get a diagnosis, and answer your questions.

3. The genetics counsellor will refer the person who has BPES (or whichever syndrome) to an appropriate specialist.

4. The genetics counsellor will act as an on-going point of contact for further treatment and questions.

I am sure that in other countries the process it different. The best way that we in this group can help each other is to provide advice on the best route to food information. So, maybe we should build a database of recommended approaches in each country. This will help all the new mums and dads.

I think it is way too difficult for us to attempt to diagnose ourselves or children.. I think I have read more than 25 articles on BPES, and I have met - in person - about 20+ people. I only really understand about 10% or less of the articles I have read. I have spoken on the phone to Dr Oley and Dr Small, and I have had several email communications with Dr De Beare. My background is not medical, I am in IT. And having done all of this research, with geneticists, eye hospitals, women's health doctors, I truly believe that the best people to give advice are the experts.

I was recently in touch with a father in Australia. He wanted to know who to turn to for advice in his part of the world. So I wrote to Dr De Beare, and she provided me with the names of 3 persons who live in his state. That seemed to be like a good approach. What better than to get suggestions from one of the best genetics experts on BPES in the world. Would you like me to co-ordinate a letter from people in our group, to her, asking her for a list of people whom she has worked with? I would be happy to do that.

If people want a more private route to research - how about this. Here is a recent article:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_uids=15962237 & dopt=Abstract

It appeared in this journal:

Am J Hum Genet. 2005 Aug;77(2):205-18. Epub 2005 Jun 16.

Ask your library to order a copy for you - look at the names of the authors - there are about 15 or more names. (see what I have pasted in below).

Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton- J, Ilyina H, SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Peer YV, Veitia RA, De Paepe A, De Baere E.

In the article you will see where these people work, the names of the hospitals. Then you could contact them directly, asking them for a contact near where you live.

In the past - that is how I have tracked people down, and I have had success.

If I can help you in any way, I would be happy to do that. I do have a bit of spare time on my hands - so please do feel free to ask.

Take care

Shireen

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of Sharon ASent: 18 August 2005 20:17blepharophimosis Subject: RE: blepharophimosis Difference between BPES and Ohdo (and other syndromes)

My fear is most doctors you talk too know nothing about this .....and how far do they go in researching what your or your childs condition maybe ? can we all play dr ? it is so hard...and reading all this can make you think your child has everything ....how do you truly proceed to find out what your child has and who do you rely on ???????? Andy Bowles & Shireen Mohandes <andy.bowles@...> wrote:

Hi everyone

I hope that I haven't misled people in any way. I just wanted to show you an article that explained what BPES means. Also, to explain some other syndromes. some of which have some characteristics of BPES.

If you want to see the typical list of features for BPES, please look here:

http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110100

I have also pasted it at the bottom of this email. The main thing to realise is that you need to get a proper diagnosis from a specialist doctor.

Also, just to re-iterate:

BPES

Disease characteristics. Classic blepharophimosis syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Two types of blepharophimosis syndrome have been described: BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF); BPES type II includes only the four major features. Other ophthalmic manifestations associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic disease-causing mutation are expected to have normal intelligence.

I think that the best way to think of is like this: (please please don't think I am doing anything other than suggesting an approach to understand what might be a lot of information, some of which is difficult to understand)

1. Do I (or my child) have any of the following?

A. Blepharophimosis

B. Ptosis

C. Epicanthus inversus

2. Do I know this for certain, or do I "think" this is what I (or my child) has?

3. If I don't know for certain, I have to find out.

4. If I have symptoms over and above what is listed below, then maybe

A. I (or my child) has BPES, plus some other problems. (for example, I have BPES, and I have heat allergy, but they aren't related)

B. I have a different syndrome, maybe one of those in the list, maybe something else. In which I should find out.

I think the main thing is to get a proper diagnosis. I got mine when I was 27 years old! Until then I thought I had something called "congenital ptosis". I had never heard of Epicanthus, or Blepharophimosis. It was a big surprise to hear about them. (I am 44 now, wiser, more cynical, and still never get round to picking up my clothes from my bedroom floor)

May I suggest that you consider this approach:

1. Print off some information from the internet - especially this article:

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

2. Send it to your doctor about a week in advance of seeing them. Say to them "I have some questions about this article, and I want you to answer them for me when I come to see you".

3. When you go the doctor, take along a pen and paper, write down the answers.

4. If you are taking a little person with you, and they are going to want attention, then ask a friend to come along with you - just to look after the little person..

I hope it this is helpful.

Take care

Shireen

=================================================================================================================

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Clinical Synopsis

INHERITANCE :

Autosomal dominant

HEAD AND NECK :

Head

Characteristic backward head tilt Ears

Simple ears Cup-shaped ears Eyes

Blepharophimosis Ptosis Telecanthus Epicanthus inversus Pronounced convex arch of eyebrows Microphthalmia Microcornea Strabismus Hypermetropia Nystagmus Nose

Flat, broad nasal bridge Mouth

High-arched palate

CHEST :

Breasts

Normal breast development

GENITOURINARY :

External genitalia, female

Scant pubic hair Internal genitalia, female

Small uterus Small atrophic ovaries

SKIN, NAILS, HAIR :

Hair

Pronounced convex arch of eyebrows Scant pubic hair (females) Scant pubic and axillary hair (females)

ENDOCRINE FEATURES :

Elevated gonadotropins Low estrogen and progesterone Amenorrhea Female infertility Menstrual irregularities Premature ovarian failure

MISCELLANEOUS :

Two types - one with premature ovarian failure (BPES type 1) and one without POF (BPES type 2)

MOLECULAR BASIS :

Caused by mutation in the forkhead transcription factor FOXL2 gene (FOXL2, 605597.0001)

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[Guest guest]

Thank you Shireen for all of your info.

I wanted to add that there are several disorders that have some of

the same characteristics of BPES, and not all of them are autosomoal

dominant(inherited from a dominant gene). What you mentioned Sharon,

if you read so much, especially when you are post partum and scared,

you can really really get worried. I know how many times I scare

myself. I hope you enjoy your baptism day.

take care

Beth

Hi everyone

> I hope that I haven't misled people in any way. I just wanted to

show you an article that explained what BPES means. Also, to

explain some other syndromes. some of which have some

characteristics of BPES.

>

> If you want to see the typical list of features for BPES, please

look here:

> http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110100

>

> I have also pasted it at the bottom of this email. The main thing

to realise is that you need to get a proper diagnosis from a

specialist doctor.

>

> Also, just to re-iterate:

>

> BPES

>

> Disease characteristics. Classic blepharophimosis syndrome (BPES)

is a complex eyelid malformation invariably characterized by four

major features: blepharophimosis, ptosis, epicanthus inversus, and

telecanthus. Two types of blepharophimosis syndrome have been

described: BPES type I includes the four major features and female

infertility caused by premature ovarian failure (POF); BPES type II

includes only the four major features. Other ophthalmic

manifestations associated with BPES include lacrimal duct anomalies,

amblyopia, strabismus, and refractive errors. Minor features include

a broad nasal bridge, low-set ears, and a short philtrum.

Individuals with BPES and an intragenic disease-causing mutation are

expected to have normal intelligence.

>

>

> I think that the best way to think of is like this: (please please

don't think I am doing anything other than suggesting an approach to

understand what might be a lot of information, some of which is

difficult to understand)

>

> 1. Do I (or my child) have any of the following?

> A. Blepharophimosis

> B. Ptosis

> C. Epicanthus inversus

>

> 2. Do I know this for certain, or do I " think " this is what I (or

my child) has?

>

> 3. If I don't know for certain, I have to find out.

>

> 4. If I have symptoms over and above what is listed below, then

maybe

> A. I (or my child) has BPES, plus some other problems. (for

example, I have BPES, and I have heat allergy, but they aren't

related)

> B. I have a different syndrome, maybe one of those in the list,

maybe something else. In which I should find out.

>

> I think the main thing is to get a proper diagnosis. I got mine

when I was 27 years old! Until then I thought I had something

called " congenital ptosis " . I had never heard of Epicanthus, or

Blepharophimosis. It was a big surprise to hear about them. (I am

44 now, wiser, more cynical, and still never get round to picking up

my clothes from my bedroom floor)

>

> May I suggest that you consider this approach:

> 1. Print off some information from the internet - especially this

article:

> http://www.geneclinics.org/servlet/access?

db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=sut

i & filename=/profiles/bpes/index.html

>

> 2. Send it to your doctor about a week in advance of seeing them.

Say to them " I have some questions about this article, and I want

you to answer them for me when I come to see you " .

>

> 3. When you go the doctor, take along a pen and paper, write down

the answers.

>

> 4. If you are taking a little person with you, and they are going

to want attention, then ask a friend to come along with you - just

to look after the little person..

>

> I hope it this is helpful.

> Take care

> Shireen

>

=====================================================================

============================================

>

> BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

>

> Clinical Synopsis

>

> INHERITANCE :

>

> Autosomal dominant

>

>

> HEAD AND NECK :

>

> Head

> Characteristic backward head tilt

> Ears

> Simple ears

> Cup-shaped ears

> Eyes

> Blepharophimosis

> Ptosis

> Telecanthus

> Epicanthus inversus

> Pronounced convex arch of eyebrows

> Microphthalmia

> Microcornea

> Strabismus

> Hypermetropia

> Nystagmus

> Nose

> Flat, broad nasal bridge

> Mouth

> High-arched palate

>

>

> CHEST :

>

> Breasts

> Normal breast development

>

>

> GENITOURINARY :

>

> External genitalia, female

> Scant pubic hair

> Internal genitalia, female

> Small uterus

> Small atrophic ovaries

>

>

> SKIN, NAILS, HAIR :

>

> Hair

> Pronounced convex arch of eyebrows

> Scant pubic hair (females)

> Scant pubic and axillary hair (females)

>

>

> ENDOCRINE FEATURES :

>

> Elevated gonadotropins

> Low estrogen and progesterone

> Amenorrhea

> Female infertility

> Menstrual irregularities

> Premature ovarian failure

>

>

> MISCELLANEOUS :

>

> Two types - one with premature ovarian failure (BPES type 1) and

one without POF (BPES type 2)

>

>

> MOLECULAR BASIS :

>

> Caused by mutation in the forkhead transcription factor FOXL2 gene

(FOXL2, 605597.0001)

>

>

>

>

>

[Guest guest]

Thanks Shireen for your wisdom and kind words ...will read more into it next week ...when i have time to breath.

thanks Beth ....you are so right you can drive yourself crazy reading all there is. As long as 's vision (tue) and hearing (wed) come out on a positive not i will be estatic!

Thanks for the well wishes for the Christening ..will try and send you pics offthe board...i dont want to clog the board :-) bethgordon03 <bethgordon03@...> wrote:

Thank you Shireen for all of your info.I wanted to add that there are several disorders that have some of the same characteristics of BPES, and not all of them are autosomoal dominant(inherited from a dominant gene). What you mentioned Sharon, if you read so much, especially when you are post partum and scared, you can really really get worried. I know how many times I scare myself. I hope you enjoy your baptism day.take careBethHi everyone> I hope that I haven't misled people in any way. I just wanted to show you an article that explained what BPES means. Also, to explain some other syndromes. some of which have some characteristics of BPES.> > If you want to see the typical list of features for BPES, please look here:> http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110100> > I have also pasted it at the bottom of this email. The main thing to realise is that you need to get a proper diagnosis from a specialist doctor.> > Also, just to re-iterate:> > BPES> > Disease characteristics. Classic blepharophimosis syndrome (BPES) is a complex eyelid

malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Two types of blepharophimosis syndrome have been described: BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF); BPES type II includes only the four major features. Other ophthalmic manifestations associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic disease-causing mutation are expected to have normal intelligence. > > > I think that the best way to think of is like this: (please please don't think I am doing anything other than suggesting an approach to understand what might be a lot of information, some of which is difficult to understand)> >

1. Do I (or my child) have any of the following?> A. Blepharophimosis> B. Ptosis> C. Epicanthus inversus > > 2. Do I know this for certain, or do I "think" this is what I (or my child) has?> > 3. If I don't know for certain, I have to find out.> > 4. If I have symptoms over and above what is listed below, then maybe> A. I (or my child) has BPES, plus some other problems. (for example, I have BPES, and I have heat allergy, but they aren't related)> B. I have a different syndrome, maybe one of those in the list, maybe something else. In which I should find out.> > I think the main thing is to get a proper diagnosis. I got mine when I was 27 years old! Until then I thought I had something called "congenital ptosis". I had never heard of Epicanthus, or Blepharophimosis. It was a big surprise to hear about

them. (I am 44 now, wiser, more cynical, and still never get round to picking up my clothes from my bedroom floor)> > May I suggest that you consider this approach:> 1. Print off some information from the internet - especially this article:> http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html> > 2. Send it to your doctor about a week in advance of seeing them. Say to them "I have some questions about this article, and I want you to answer them for me when I come to see you".> > 3. When you go the doctor, take along a pen and paper, write down the answers.> > 4. If you are taking a little person with you, and they are going to want attention, then ask a friend to

come along with you - just to look after the little person..> > I hope it this is helpful. > Take care> Shireen> =================================================================================================================> > BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES> > Clinical Synopsis > > INHERITANCE : > > Autosomal dominant > > > HEAD AND NECK : > > Head > Characteristic backward head tilt > Ears > Simple ears > Cup-shaped ears > Eyes > Blepharophimosis > Ptosis > Telecanthus > Epicanthus inversus > Pronounced convex arch of eyebrows

> Microphthalmia > Microcornea > Strabismus > Hypermetropia > Nystagmus > Nose > Flat, broad nasal bridge > Mouth > High-arched palate > > > CHEST : > > Breasts > Normal breast development > > > GENITOURINARY : > > External genitalia, female > Scant pubic hair > Internal genitalia, female > Small uterus > Small atrophic ovaries > > > SKIN, NAILS, HAIR : > > Hair > Pronounced convex arch of eyebrows > Scant pubic hair (females) > Scant pubic and axillary hair

(females) > > > ENDOCRINE FEATURES : > > Elevated gonadotropins > Low estrogen and progesterone > Amenorrhea > Female infertility > Menstrual irregularities > Premature ovarian failure > > > MISCELLANEOUS : > > Two types - one with premature ovarian failure (BPES type 1) and one without POF (BPES type 2) > > > MOLECULAR BASIS : > > Caused by mutation in the forkhead transcription factor FOXL2 gene (FOXL2, 605597.0001) > > > > >

[Guest guest]

Dear Andy,

IF we ever find out exactly what is going on with kenley there will be another syndrome that shows signs of BPES. Kenley has signs of BPES and some of the other symdromes but not ALL of the signs of any one. They have no idea what she has.

Andy Bowles & Shireen Mohandes <andy.bowles@...> wrote:

Hi

For the avoidance of doubt, you may like to see how the medical profession define BPES, Ohdo, and other syndromes.

I hope that this information helps. There is a group for Ohdo Syndrome. My friend Pat Seville has set up that group and runs it.

Regards

Shireen

Start your day with - make it your home page

[Guest guest]

How do you know if it is Type I or Type II?

> Hi

> For the avoidance of doubt, you may like to see how the medical

profession

> define BPES, Ohdo, and other syndromes.

> I hope that this information helps. There is a group for

Ohdo

> Syndrome. My friend Pat Seville has set up that group and runs it.

> Regards

> Shireen

> -------------------------------------------------------------------

---------

> -------------------------------------------------------------------

---------

> ------------------------------------------------------------------

>

>

> (BPES is an Acronym for: Blepharophimosis, Ptosis, Epicanthus

inversus.)

>

> BPES

> Disease characteristics. Classic blepharophimosis syndrome (BPES)

is a

> complex eyelid malformation invariably characterized by four major

features:

> blepharophimosis, ptosis, epicanthus inversus, and telecanthus.

Two types of

> blepharophimosis syndrome have been described: BPES type I

includes the four

> major features and female infertility caused by premature ovarian

failure

> (POF); BPES type II includes only the four major features. Other

ophthalmic

> manifestations associated with BPES include lacrimal duct

anomalies,

> amblyopia, strabismus, and refractive errors. Minor features

include a broad

> nasal bridge, low-set ears, and a short philtrum. Individuals with

BPES and

> an intragenic disease-causing

> <http://www.geneclinics.org/servlet/access?

qry=44 & db=genestar & fcn=term & gtrep

> ort2=true & id=8888892 & key=pPx9UVuIxdlIm & format=frame> mutation are

expected

> to have normal intelligence.

>

>

> Clinical Diagnosis

>

>

> The diagnosis of blepharophimosis syndrome (BPES) is based

primarily on four

> clinical findings, which are present at birth [Oley

> <http://www.geneclinics.org/servlet/access?

id=8888892 & key=pPx9UVuIxdlIm & gry=

> INSERTGRY & fcn=y & fw=sY5-

& filename=/glossary/profiles/bpes/details.html#gcID59

> 187> & Baraitser 1995]:

>

> * Blepharophimosis: Narrowing of the horizontal aperture of the

> eyelids. In normal adults, the horizontal palpebral fissure

measures 25-30

> mm; in individuals with BPES, it generally measures 20-22 mm.

>

> * Ptosis: Drooping of the upper eyelid causing a narrowing of

the

> vertical palpebral fissure. In individuals with BPES, ptosis is

secondary to

> dysplasia of the musculus levator palpebrae superioris. To

compensate for

> the ptosis, affected

> <http://www.geneclinics.org/servlet/access?

qry=252 & db=genestar & fcn=term & gtre

> port2=true & id=8888892 & key=pPx9UVuIxdlIm & format=frame>

individuals:

>

>

> * Use the musculus frontalis, wrinkling the forehead to draw

the

> eyebrows upward, which results in a characteristic facial

appearance

>

> * Tilt their head backward into a chin-up position

>

> * Epicanthus inversus: A skinfold arising from the lower

eyelid and

> running inwards and upwards.

>

> * Telecanthus: Lateral displacement of the inner canthi with

normal

> interpupillary distance.

>

> Two types of blepharophimosis syndrome have been described

[Zlotogora

> <http://www.geneclinics.org/servlet/access?

id=8888892 & key=pPx9UVuIxdlIm & gry=

> INSERTGRY & fcn=y & fw=sY5-

& filename=/glossary/profiles/bpes/details.html#gcID59

> 192> et al 1983]:

>

> * BPES type I includes the four major features and female

infertility

> caused by premature ovarian failure (POF).

>

> * BPES type II includes only the four major features.

>

> -------------------------------------------------------------------

---------

> -------------------------------------------------------------------

---------

> ------------------------------------------------------

>

> Now, here is some info about Ohdo (it is not an acronym, it is

named after a

> doctor called " Mr Ohdo " .)

>

> As you can see, in many cased each of the syndromes listed below

has only 1

> or 2 of the main characteristics of BPES.

>

> -------------------------------------------------------------------

---------

> -------------------------------------------------------------------

---------

> -------------------------------------------------------

>

>

>

> Table 2. Overview of Conditions in which Ptosis and/or

Blepharophimosis are

> Prominent Features

>

> Syndrome

> Inheritance 1

> Characteristics

> OMIM

>

> Hereditary congenital

> <http://www.geneclinics.org/servlet/access?

qry=29 & db=genestar & fcn=term & gtrep

> ort2=true & id=8888892 & key=pPx9UVuIxdlIm & format=frame> ptosis 1

(PTOS1)

> AD

>

> * Ptosis

>

> 178300 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=178300>

>

> Hereditary congenital

> <http://www.geneclinics.org/servlet/access?

qry=29 & db=genestar & fcn=term & gtrep

> ort2=true & id=8888892 & key=pPx9UVuIxdlIm & format=frame> ptosis 2

(PTOS2)

> XL

>

> * Ptosis

>

> 300245 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=300245>

>

> Ohdo blepharophimosis syndrome

> AD 2

>

> * Blepharophimosis

>

> * Blepharoptosis

>

> * Mental retardation

>

> * Congenital

> <http://www.geneclinics.org/servlet/access?

qry=29 & db=genestar & fcn=term & gtrep

> ort2=true & id=8888892 & key=pPx9UVuIxdlIm & format=frame> heart

defects

>

> * Hypoplastic teeth

>

> 249620 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=249620>

>

> Michels syndrome

>

> * Blepharophimosis

>

> * Blepharoptosis

>

> * Epicanthus inversus

>

> * Ophthalmic anterior segment defects (cornea)

>

> * Cleft lip/palate

>

> * Minor skeletal abnormalities

>

> 257920 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=257920>

>

> Ptosis with external ophthalmoplegia

> AR

>

> * Ptosis

>

> * Ophthalmoplegia

>

> * Miosis

>

> * Decreased accommodation

>

> * Strabismus

>

> * Amblyopia

>

> 258400 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=258400>

>

> Noonan syndrome

> <http://www.geneclinics.org/servlet/access?

id=8888892 & key=pPx9UVuIxdlIm & gry=

>

INSERTGRY & fcn=y & fw=XjKR & filename=/glossary/profiles/noonan/index.html

>

> AD

>

> * Ptosis

>

> * Short stature

>

> * Heart defects

>

> * Blood clotting deficiencies

>

> 163950 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=163950>

>

> Marden- syndrome

> AR

>

> * Ptosis

>

> * Blepharophimosis

>

> * Growth retardation

>

> * Neurologic defects (mental retardation, absent primitive

reflexes)

>

> 248700 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=248700>

>

> Schwartz-Jampel syndrome

>

> * Intermittent ptosis

>

> * Blepharophimosis

>

> * Telecanthus

>

> * Cataract

>

> * Short stature

>

> * Cartilage and skeletal anomalies

>

> * Muscle hypertrophy

>

> 255800 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=255800>

>

> Dubowitz syndrome

>

> * Ptosis

>

> * Blepharophimosis

>

> * Lateral telecanthus

>

> * Short stature

>

> * Mental retardation

>

> * Immunologic deficiencies

>

> 223370 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=223370>

>

> -Lemli-Opitz syndrome

> <http://www.geneclinics.org/servlet/access?

id=8888892 & key=pPx9UVuIxdlIm & gry=

>

INSERTGRY & fcn=y & fw=XjKR & filename=/glossary/profiles/slo/index.html>

>

> * Ptosis

>

> * Epicanthus

>

> * Cataract

>

> * Growth and mental retardation

>

> * Severe genitourinary, cardiac, and gastrointestinal

anomalies

>

> 270400 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=270400>

>

> Oley

> <http://www.geneclinics.org/servlet/access?

id=8888892 & key=pPx9UVuIxdlIm & gry=

> INSERTGRY & fcn=y & fw=sY5-

& filename=/glossary/profiles/bpes/details.html#gcID59

> 187> & Baraitser 1995 , OMIM

> 1. AD=autosomal dominant; AR=autosomal recessive

> <http://www.geneclinics.org/servlet/access?

qry=237 & db=genestar & fcn=term & gtre

> port2=true & id=8888892 & key=pPx9UVuIxdlIm & format=frame> , XL=X-linked

> 2. Presumed mode

> <http://www.geneclinics.org/servlet/access?

qry=132 & db=genestar & fcn=term & gtre

> port2=true & id=8888892 & key=pPx9UVuIxdlIm & format=frame> of

inheritance

[Guest guest]

Hi Sue

Take a look here:

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

The paragraph that answer part of your question - is below: (quoted for your convenience)

There are plenty of complicated words here. May I suggest that you print the article and ask a genetics person to explain it to you.

I hope that is useful.

Take care

Shireen

Management

Evaluations at Initial Diagnosis

Individuals should be thoroughly examined by a (pediatric) opthalmologist for visual acuity measurement, refraction, measurement of ocular movements and strabismus, and measurement of palpebral apertures and eyelid elevation. Individuals with evidence of amblyopia or strabismus should be referred to a pediatric ophthalmologist for appropriate management [beckingsale et al 2003].

Individuals with BPES should be referred to a clinical geneticist for an appropriate genetic workup and counseling. In girls affected with BPES, the family history can already give an indication of the type of BPES (association with subfertility or infertility in affected females). In uninformative families or simplex cases (i.e., in which only one family member is affected), molecular genetic testing may be helpful for assessing for premature ovarian failure risk in some cases.

Testing

Females with premature ovarian failure have endocrinologic findings of hypergonadotrophic hypogonadism:

Elevated serum concentration of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) Decreased serum concentration of estradiol and progesterone

Ultrasonography reveals a small hypoplastic uterus and streak ovaries. Typical anatomic pathologic findings of the ovary are "resistant-ovary syndrome" (presence of primordial follicles, but no follicular development) progressing into a "true premature menopause" (presence of scars in place of primordial follicles) [Fraser et al 1988].> blepharophimosis Re: Difference between BPES and> Ohdo (and other syndromes)>> How do you know if it is Type I or Type II?>

[Guest guest]

Is anyone testing their girls for BPES I and BPES II in the U.S.? My daughter will be 4 next month.

[Guest guest]

Is anyone testing their girls for BPES I and BPES II in the U.S.? My daughter will be 4 next month.

[Guest guest]

Is there a testfor this ? Does is make a difference ? Would love to know now that i have a little girl. obriengroup@... wrote:

Is anyone testing their girls for BPES I and BPES II in the U.S.? My daughter will be 4 next month.<a href="http://www.TickerFactory.com/"><img border="0" src="http://www.TickerFactory.com/ezt/d/1;14;11/st/20050609/k/3901/preg.png"></a>

Start your day with - make it your home page

[Guest guest]

I will call her. Thanks.

Pam

[Guest guest]

This is my child surgeron

Biographical Sketch

A. Maher, M.D.Ophthalmic Plastic, Reconstructive and Orbital SurgeryDepartment of Ophthalmology Dr. Maher is a specialist in the treatment of medical and surgical diseases of the eyelids and orbit. She also has a particular interest and experience in cosmetic surgery involving the eyelids and upper face. Dr. Maher graduated from Harvard College and received her Doctor of Medicine degree from Harvard Medical School in 1984. She trained as a resident in ophthalmology at Manhattan Eye, Ear, and Throat Hospital, and then completed a fellowship in Ophthalmic Plastic, Reconstructive and Orbital Surgery at the New York Eye and Ear Infirmary and Manhattan Eye, Ear and Throat Hospital. She is certified by the American Board of Ophthalmology and is a fellow of the American Academy of Ophthalmology. Dr. Maher is actively involved in teaching surgical technique to the residents and fellows at the New York Eye and Ear Infirmary and Manhattan Eye, Ear and Throat Hospital. She lectures frequently in the New York area, has taught courses to ophthalmologists in the field of Ophthalmic Plastic Surgery, and is involved in clinical research and the writing of medical journal articles in her specialty.obriengroup@... wrote:

Is anyone testing their girls for BPES I and BPES II in the U.S.? My daughter will be 4 next month.<a href="http://www.TickerFactory.com/"><img border="0" src="http://www.TickerFactory.com/ezt/d/1;14;11/st/20050609/k/3901/preg.png"></a>__________________________________________________

[Guest guest]

Helo Shireen,

Firstly thanks for the great way you handle this site with

commonsense & patience! Also its so helpful for people to be directed

to the information they need.

just read that you found, through Dr de Beare, about experts in the

field in Oz. And you would be happy to do this again??

My daughter, aged 19yrs, with BPES is now living in Australia but

doesn`t have any contacts yet for her eye issues. (She has sight

problems as well as the BPES) The fertility aspect is no. 1 in

importance for her right now - has had her DNA taken here in NZ but

will be some time before we hear anything.

If I have understood you correctly would you be able to find out some

names she could look up? She is in the far north of Queensland

Australia?

Much appreciated & keep up the good work

Maree

>

> Hi everyone

> I hope that I haven't misled people in any way. I just wanted to

show you

> an article that explained what BPES means. Also, to explain some

other

> syndromes. some of which have some characteristics of BPES.

>

> If you want to see the typical list of features for BPES, please

look here:

> http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110100

>

> I have also pasted it at the bottom of this email. The main thing

to realise

> is that you need to get a proper diagnosis from a specialist doctor.

>

> Also, just to re-iterate:

>

>

> BPES

> Disease characteristics. Classic blepharophimosis syndrome (BPES)

is a

> complex eyelid malformation invariably characterized by four major

features:

> blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Two

types of

> blepharophimosis syndrome have been described: BPES type I includes

the four

> major features and female infertility caused by premature ovarian

failure

> (POF); BPES type II includes only the four major features. Other

ophthalmic

> manifestations associated with BPES include lacrimal duct anomalies,

> amblyopia, strabismus, and refractive errors. Minor features

include a broad

> nasal bridge, low-set ears, and a short philtrum. Individuals with

BPES and

> an intragenic disease-causing

> <http://www.geneclinics.org/servlet/access?

qry=44 & db=genestar & fcn=term & gtrep

> ort2=true & id=8888892 & key=pPx9UVuIxdlIm & format=frame> mutation are

expected

> to have normal intelligence.

>

> I think that the best way to think of is like this: (please please

don't

> think I am doing anything other than suggesting an approach to

understand

> what might be a lot of information, some of which is difficult to

> understand)

>

> 1. Do I (or my child) have any of the following?

> A. Blepharophimosis

> B. Ptosis

> C. Epicanthus inversus

>

> 2. Do I know this for certain, or do I " think " this is what I (or

my child)

> has?

>

> 3. If I don't know for certain, I have to find out.

>

> 4. If I have symptoms over and above what is listed below, then

maybe

> A. I (or my child) has BPES, plus some other problems. (for

example, I have

> BPES, and I have heat allergy, but they aren't related)

> B. I have a different syndrome, maybe one of those in the list,

maybe

> something else. In which I should find out.

>

> I think the main thing is to get a proper diagnosis. I got mine

when I was

> 27 years old! Until then I thought I had something

called " congenital

> ptosis " . I had never heard of Epicanthus, or Blepharophimosis. It

was a big

> surprise to hear about them. (I am 44 now, wiser, more cynical,

and still

> never get round to picking up my clothes from my bedroom floor)

>

> May I suggest that you consider this approach:

> 1. Print off some information from the internet - especially this

article:

> http://www.geneclinics.org/servlet/access?db=geneclinics

> <http://www.geneclinics.org/servlet/access?

db=geneclinics & site=gt & id=8888891

>

& key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.ht

ml>

>

& site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/pro

files/

> bpes/index.html

>

> 2. Send it to your doctor about a week in advance of seeing them.

Say to

> them " I have some questions about this article, and I want you to

answer

> them for me when I come to see you " .

>

> 3. When you go the doctor, take along a pen and paper, write down

the

> answers.

>

> 4. If you are taking a little person with you, and they are going

to want

> attention, then ask a friend to come along with you - just to look

after the

> little person..

>

> I hope it this is helpful.

> Take care

> Shireen

>

======================================================================

======

> =====================================

>

>

> BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

>

>

>

>

> Clinical Synopsis

>

>

> INHERITANCE :

>

>

>

>

> Autosomal dominant

>

>

>

> HEAD AND NECK :

>

>

>

>

> Head

>

> Characteristic backward head tilt

>

> Ears

>

> Simple ears

>

> Cup-shaped ears

>

> Eyes

>

> Blepharophimosis

>

> Ptosis

>

> Telecanthus

>

> Epicanthus inversus

>

> Pronounced convex arch of eyebrows

>

> Microphthalmia

>

> Microcornea

>

> Strabismus

>

> Hypermetropia

>

> Nystagmus

>

> Nose

>

> Flat, broad nasal bridge

>

> Mouth

>

> High-arched palate

>

>

>

> CHEST :

>

>

>

>

> Breasts

>

> Normal breast development

>

>

>

> GENITOURINARY :

>

>

>

>

> External genitalia, female

>

> Scant pubic hair

>

> Internal genitalia, female

>

> Small uterus

>

> Small atrophic ovaries

>

>

>

> SKIN, NAILS, HAIR :

>

>

>

>

> Hair

>

> Pronounced convex arch of eyebrows

>

> Scant pubic hair (females)

>

> Scant pubic and axillary hair (females)

>

>

>

> ENDOCRINE FEATURES :

>

>

>

>

> Elevated gonadotropins

>

> Low estrogen and progesterone

>

> Amenorrhea

>

> Female infertility

>

> Menstrual irregularities

>

> Premature ovarian failure

>

>

>

> MISCELLANEOUS :

>

>

>

>

> Two types - one with premature ovarian failure (BPES type 1) and

one without

> POF (BPES type 2)

>

>

>

> MOLECULAR BASIS :

>

>

>

>

> Caused by mutation in the forkhead transcription factor FOXL2 gene

(FOXL2,

> 605597.0001

> <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?

id=605597 & a=605597_AllelicV

> ariant0001> )

>

>

>

>

>

> <a href= " http://www.TickerFactory.com/ " >

> <img border= " 0 "

>

src= " http://www.TickerFactory.com/ezt/d/1;14;11/st/20050609/k/3901/pre

g.png "

> ></a>

>

>

>

> _____

>

> Start

<http://us.rd./evt=34442/*http://www./r/hs> your

> day with - make it your home page

>

>