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Orofaciodigital syndrome type 1

What is Orofaciodigital syndrome type 1?

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

Other condition names

  • OFD1
  • OFDI
  • OFDSI
  • Oral-facial-digital syndrome type 1
  • Papillon-Léage-Psaume syndrome

Inheritance type

Not applicable, X-linked dominant

Age of Onset

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