SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/717945001
http://purl.bioontology.org/ontology/SNOMEDCT/717945001
Preferred Name

BRESEK syndrome

Definitions
X-linked mental retardation with characteristics of Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). It has been described in two brothers, one of whom died shortly after birth. One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome). Transmission is X-linked dominant. X-linked syndrome with characteristics of brain anomalies, severe intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). It has been described in two brothers, one of who died shortly after birth. One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome). Transmission is X-linked dominant.
Synonyms
X-linked mental retardation Reish type
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)
BRESEK (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) syndrome
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome
Type http://www.w3.org/2002/07/owl#Class
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