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Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
rarePosterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
- Identifiers
- MONDO:0008650 OMIM:192800Orphanet:2064
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- congenital ptosis and posterior fusion of lumbosacral vertebrae · familial posterior lumbosacral vertebral fusion and eyelid ptosis · Faulk Epstein Jones syndrome · Faulk-Epstein-Jones syndrome · vertebral fusion posterior lumbosacral blepharoptosis
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