Orphanet: Frontometaphyseal dysplasia

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Frontometaphyseal dysplasia

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant or Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q78.5
  • OMIM: 305620  617137
  • UMLS: C0265293
  • MeSH: C538064
  • GARD: 826
  • MedDRA: -

Detailed information


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