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Stern-Lubinsky-Durrie syndrome

Disease definition

Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.

ORPHA:3194

  • Synonym(s):
    • Corneo-dermato-osseous syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H18.5
  • OMIM: 122440
  • UMLS: C1852542  C2931506
  • MeSH: C536444  C537488
  • GARD: 1531
  • MedDRA: -

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