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Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Disease definition

A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

ORPHA:2064

Classification level: Disorder
  • Synonym(s):
    • Faulk-Epstein-Jones syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q87.5
  • OMIM: 192800
  • UMLS: C4510303
  • MeSH: C536344
  • GARD: 2276
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Additional information

Further information on this disease

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