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Hypertelorism-hypospadias-polysyndactyly syndrome

What is Hypertelorism-hypospadias-polysyndactyly syndrome?

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

Other condition names

  • Acrofrontofacionasal dysostosis type 2
  • Acrofrontofacionasal syndrome type 2
  • Naguib-Richieri-Costa syndrome

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.