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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H01795 Blepharophimosis-mental retardation syndrome
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P
Title
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G
Title
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP
