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Frontometaphyseal dysplasia

Disease definition

Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder (see this term) and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

ORPHA:1826

  • 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: -

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