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Posterior fusion of lumbosacral vertebrae - blepharoptosis

ORPHA2064
Synonym(s) Faulk-Epstein-Jones syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • Q87.5
OMIM
UMLS
  • C1860464
MeSH
  • C536344
MedDRA -

Summary

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


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