Definition An X-linked condition (OMIM:300404) defined by the BRESEK acronym:
• Brain anomalies
• Retardation–mental & growth
• Ectodermal dysplasia
• Skeletal defects
• Ear deformity & deafness/Eye hypoplasia
• Kidney dysplasia/hypoplasia
It is similar to BRESHECK syndrome but lacks Hirschsprung’s disease and cleft palate/cryptorchidism. Because both are caused by a mutation in MBTPS2, separation of the two is pointless.
Am J Med Genet A. 2011 Nov 21.