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BRESEK syndrome

Disease 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).

ORPHA:85284

Classification level: Disorder
  • Synonym(s):
    • BRESHECK syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • ICD-11: LD90
  • OMIM: 308205
  • UMLS: C3502469
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been described in two brothers, one of whom died shortly after birth.

Clinical description

One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome)

Genetic counseling

Transmission is X-linked dominant.

- Last update: March 2008

  A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.