Das Blepharophimose-Ptosis-Epikanthus-inversus-Syndrom (BPES) – im deutschsprachigen Raum in der Regel als Waardenburg-Syndrom bekannt

The blepharophimosis ptosis epicanthus inversus syndrome (BPES, also known as Waardenburg syndrome) was probably first reported by Ammon in 1841 and discribed more fully by Vignes in 1889. Its primary effects on the soft tissue of the midface are blepharophimosis, ptosis, epicanthus inversus and telecanthus. It starts with the epicanthic folds at about the age of 3-4 years, followed by the correction of the ptosis about 9-12 months later. Early surgery may be necessary for amblyopia. In 1995 the gene locus was identified as 3Q23. BPES is due to a mutation within a single gene, the FOXL2 gene. In female patients an early childhood ovarian insufficiency must be excluded.