BRESEK syndrome

Also known as: BRESHECK syndrome

Definition

Orphanet

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).

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Symptoms

Medical Term Other Names Description
Ectodermal dysplasia Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Abnormal vertebral morphology Abnormality of the vertebrae, Multiple vertebral anomalies, Abnormal vertebral bodies, Abnormal vertebrae, Vertebral anomalies [more] An abnormality of one or more of the vertebrae.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Scoliosis Curved spine, Abnormal curving of the spine, Curvature of spine [more] The presence of an abnormal lateral curvature of the spine.
Intellectual disability, severe Early and severe mental retardation, Severe mental retardation Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Macrotia Large pinnae, Large ears Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes.

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