Orphanet: NPHP3 related Meckel like syndrome

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NPHP3-related Meckel-like syndrome

Disease definition

NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.


Classification level: Disorder
  • Synonym(s):
    • Goldston syndrome
    • Meckel syndrome type 7
    • Meckel-like syndrome type 1
    • Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q61.9
  • OMIM: 267010
  • UMLS: C2673885
  • MeSH: -
  • GARD: 4665
  • MedDRA: -
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