Although this condition is extremely rare, rare should not mean alone.
BLEPHAROPHIMOSIS SYNDROME PDF
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More about BPES. This summary from the Journal of Medical Genetics, 15, may be helpful.
Blepharophimosis: The palpebral fissure is reduced in horizontal dimension. The normal horizontal tissue length in adults is 25 to 30mm whereas in this syndrome it is usually 20 to 22mm.
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.
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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.
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What else is there? Most of the references listed seem to conclude that:. 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.
Appearances are very varied. There may be additional issues.
Best medical resource is here:. Blepharophimosis, Ptosis, and Epicanthus Inversus. Last update: 24 Mar 20 11 Clicca qui per la versione italiana di questo sito.