BPES is a chromosomal abnormity. The syndrome is very rare, according to Yan Xu (2009) the frequency is 1 : 50,000. Two types of blepharophimosis syndrome have been described: BPES type I includes four major eyelid malformations and female infertility caused by premature ovarian failure (POF); BPES type II includes only the following four major eyelid features:
- 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.
- Epicanthus inversus; A skinfold arising from the lower eyelid and running inwards and upwards.
- Telecanthus: The eyes are wide apart due to lateral displacement of the inner canthi with normal interpupillary distance. In most cases one does not see the white in the inner corner of the eyes.
Other ophthalmic manifestations are:
- Lacrimal duct anomalies
- Refractive errors
The following non-ophthalmic features can appear:
- Broad nasal bridge
- Low-set ears
- Cup shaped ears
- Short philtrum (distance between mouth and nose)
Source: De Baere (2004)