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Nager syndrome

Disease definition

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

ORPHA:245

  • Synonym(s):
    • Mandibulofacial dysostosis with preaxial limb anomalies
    • NAFD
    • Nager acrofacial dysostosis
    • Preaxial acrodysostosis
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q75.4
  • OMIM: 154400
  • UMLS: C0265245
  • MeSH: C538184
  • GARD: 498
  • MedDRA: -

Detailed information

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