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Lowe-Kohn-Cohen syndrome

Disease definition

Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.


  • Synonym(s):
    • Deafness-nephritis-ano-rectal malformation syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C2931080
  • MeSH: -
  • GARD: 1695
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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