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Orofaciodigital syndrome type 1

Disease definition

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.

ORPHA:2750

Classification level: Disorder
  • Synonym(s):
    • OFD1
    • OFDI
    • OFDSI
    • Oral-facial-digital syndrome type 1
    • Papillon-Léage-Psaume syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 311200
  • UMLS: C1510460  C2931426
  • MeSH: -
  • GARD: 4121
  • MedDRA: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.