Orphanet: Hypertelorismus Hypospadie Polysyndaktylie Syndrom

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Hypertelorism-hypospadias-polysyndactyly syndrome

Disease definition

Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.


Classification level: Disorder
  • Synonym(s):
    • Acrofrontofacionasal dysostosis type 2
    • Acrofrontofacionasal syndrome type 2
    • Naguib-Richieri-Costa syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 239710
  • UMLS: C1855904
  • MeSH: -
  • GARD: 287
  • MedDRA: -
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