BRESEK syndrome

Orpha code: 85284OMIM code: 308205

Definition

X-linked mental retardation, Reish type is characterised by 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).

Disease data
Classification

Malformation syndrome

Synonyms
BRESHECK syndrome
Zespół BRESHECK
ORPHA code
85284
OMIM code
308205
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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