Web Resources

http://www.bpes.org.uk/
http://www.experienceproject.com/groups/Have-Blepharophimosis-Syndrome-Type-2/89540
http://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome
http://www.webmd.com/children/blepharophimosis-ptosis-epicanthus-inversus-syndrome

Inheritance

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Medical Information

BPES Syndrome

Background and History

Not many gene mutations affect the combination of eyelid development and ovary function but that is the case in this disorder.  It seems to occur more commonly in India and China.

Clinical Correlations

The distance between the corners of the eyelids is short and people have difficulty elevating their eyelids, sometimes to the extent that they have to tilt their heads back to look beneath them.  The root of the nose is flat and in newborns the usual lid fold near the nose is abnormally placed beneath instead of above the corner of the eye.  The distance between the corners of the two eyes is often abnormally far apart.  In severe cases, the lower lid may turn inward so that the lashes rub against the eye creating irritation and scarring of the cornea (the ‘windshield’ of the eye). 

In some but not all females, the ovaries do not function properly and infertility results.

Genetics

This is an autosomal dominant disorder in some familial cases giving a vertical pattern of inheritance.  In the majority of these, a specific gene mutation is responsible but numerous (12%) patients do not have such a mutation.  In others a chromosomal abnormality may be responsible but in such cases other abnormalities are often present.

Diagnosis and Prognosis

The facial appearance is characteristic and suggests the diagnosis.  Lifespan seems to be normal.  It may be possible to lift the eyelids and improve the facial appearance with surgery.  This may be necessary in individuals whose lashes rub against the eye.