Spondylo-ocular syndrome

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

85194

OMIM code

605822

ICD10 code

Q87.5

ICD11 code

*Soruce