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Edinburgh malformation syndrome

Disease definition

Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.


Classification level: Disorder
  • Synonym(s):
    • Typus Edinburgensis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q95.2
  • OMIM: 129850
  • UMLS: C0795933
  • MeSH: C563051
  • GARD: 2074
  • MedDRA: -
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