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BPES Family Support |
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BPES, also known as BPEI, is a rare genetic disorder, affecting most notably the eyelids.
BPES stands for: Blepharophimosis Ptosis Epicanthus Inversus Syndrome.
Although this condition is extremely rare, rare should not mean alone. It is in this spirit that the BPES Family Support Network was established in 1994. In August 2004 the BPES Family Network decided that the Yahoo group called “Blepharophimosis” facilitated a better communication option for those individuals and families affected by the disorder. Since the merger the Yahoo group has more than 900 members from all over the world and has become the main forum for sharing experiences and being in touch with other families and individuals. |
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Last update: 24 Mar 2011 |
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Disclaimer:
The information here and other Internet information sources to which it refers, is intended to provide general information and should not be used to diagnose or treat a health problem or disease.
Do not use the information found here as a substitute for professional evaluation and treatment.
Any information you find here or on websites which we link to should be verified with your Professional Health Care Provider. Consult your Professional Health Care Provider with any specific medical questions or problems you may have. |
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More about BPES This summary from the Journal of Medical Genetics, 1988 (15, 471-51) may be helpful
Blepharophimosis: The palpebral fissure is reduced in horizontal dimension.
In simple English: eyelids that are abnormally narrow horizontally.
Ptosis: Blepharoptosis literally means a falling of the lids. The palpebral fissure is abnormally small in the vertical dimension. It is caused by the absence or impairment of the function of the levator palpebrae superioris muscle and is usually bilateral and symmetrical. To compensate for the ptosis, affected persons assume a characteristic posture with the head tilted backwards, the brow furrowed, and the chin arched upward.
In simple English: drooping of the upper eyelids.
Epicanthus inversus: Small skin fold which arises from the lower lid and runs inwards and upwards. Associated with this is an increased length of the medial canthal ligament and a lack of the normal depression seen at the internal canthus.
In simple English: a vertical fold of skin from the lower eyelid up either side of the nose.
The effect of blepharophimosis, ptosis and epicanthus inversus is to reduce the size of the palpebral fissure by reducing it in both height and width.
This article, along with others which have been useful, are listed on the page called Articles.
What else is there? Most of the references listed seem to conclude that:
There are two types (known as "Type I" and "Type II")
In some women, fertility may also be a problem (for men any fertility problems are unrelated to BPES)
Consultation with a geneticist will explain many more things to you.
A parent who has BPES has a 50% chance of passing on BPES to their children. In other words, each child of an individual with BPES has a 50% chance of inheriting the condition
Appearances are very varied
There may be additional issues |
