Orphanet: McKusick Kaufman syndrome

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McKusick-Kaufman syndrome

Disease definition

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.


Classification level: Disorder
  • Synonym(s):
    • Hydrometrocolpos-postaxial polydactyly syndrome
    • Kaufman-Mckusick syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 236700
  • UMLS: C0948368
  • MeSH: C538159
  • GARD: 3427
  • MedDRA: 10052312

Detailed information


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