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Stern-Lubinsky-Durrie syndrome

Synonym(s) Corneo-dermato-osseous syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
  • H18.5
  • C1852542
  • C2931506
  • C536444
  • C537488
MedDRA -


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.

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