Summary

Ascher syndrome is characterized by the association of blepharochalasis and double lip. It is a very rare condition, described in approximately 50 patients. Blepharochalasis is characterized by relapsing edematous tumefaction and increasing relaxation of the eyelids with atrophy of the skin, blepharophimosis and emergence of a pseudoepicanthus. Folding of the oral mucosa is referred to as double lip. It usually affects the upper lip, but the lower lip may also be involved. Euthyroid struma, hypertelorism, ptosis, broad nose with broad nasal tip, highly arched palate, bilateral third finger clinodactyly and, in later stages, orbital fat hernia and prolapse of the lacrimal gland, are further facultative symptoms. Reported cases are probably due to de novo dominant autosomal mutations, but no gene has been localized up to now.