Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blepharophimosis-ptosis-epicanthus inversus syndrome types 1 and 2), or sporadically. Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 is associated with female infertility. Mental subnormality may occur, especially in the sporadic cases. Chromosome analysis from a few patients suggests that the genetic defect causing the syndrome is localized to chromosome 3q22.
Strømme
P
P
Department of Pediatrics, Rikshospitalet, University of Oslo, Norway.
Sandboe
F
F
D016569:Blepharophimosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D001763:Blepharoptosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007247:Infertility, Female / Q000150:complications; D008297:Male; D010375:Pedigree; D013577:Syndrome