Blepharophimosis-mental retardation syndrome

Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. The majority of syndromic patients with blepharophimosis show a variable degree of mental retardation. In 1986, Ohdo et al. delineated a syndrome of blepharophimosis, ptosis, hypoplastic teeth, heart defect, and mental handicap, to which his name was attached. Subsequently, several cases have been reported as Ohdo/Ohdo-like syndrome, widening the spectrum of clinical findings of BMRS, which lately were classified into five subtypes by Verloes et al: (1) del(3p) syndrome; (2) BMRS, Ohdo type; (3) BMRS, SBBYS (Say-Barber/Biesecker/Young-Simpson) type [DS:H01793]; (4) BMRS, MKB (Maat-Kievit-Brunner) type; (5) BMRS, Verloes type. BMR may also be found in relatively nonspecific developmental anomalies and in unclassified individuals, further widening the etiology of BMR disorders.