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Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
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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
A summary on this disease is available in
Français (2007)
Español (2007)
Deutsch (2007)
Italiano (2007)
Nederlands (2007)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Newborn screening
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.