spondylo-ocular syndrome
Spondylo-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.
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0020247
congenital vitreoretinal dysplasia
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
MONDO:1040022
linkeropathy
is_a
SOS
related
spondyloocular syndrome
related