Orphanet: Perlman syndrome

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Perlman syndrome

Disease definition

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.


Classification level: Disorder
  • Synonym(s):
    • Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.3
  • OMIM: 267000
  • UMLS: C0796113
  • MeSH: -
  • GARD: 3936
  • MedDRA: -

Detailed information


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