Orphanet: Marshall syndrome

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Marshall syndrome

Disease definition

A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 154780
  • UMLS: C0265235
  • MeSH: C536025
  • GARD: 6984
  • MedDRA: -
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