Blepharophimosis intellectual disability syndromes

Overview

Type of disease: Genetic, autosomal dominant | Rare conditions

Blepharophimosis intellectual disability syndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids (ptosis) and intellectual disability. Dr. Ohdo published an article in 1986 describing the first three cases of this syndrome (in a brother, sister, and cousin). Since that time many other case reports describing people with similar (yet variable) features have been reported. The syndromes usually occur sporadically. In most cases the underlying cause can not be determined.Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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