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Spondylo-ocular syndrome
rareSpondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
- Identifiers
- MONDO:0011604 OMIM:605822Orphanet:85194
- Causal genes
- XYLT2
- Part of
- Congenital vitreoretinal dysplasiaLinkeropathyOsteogenesis imperfecta and a reduction of bone mineral density.
- Also known as
- SOS · spondyloocular syndrome
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