This condition, an oculo-skeletal syndrome, has been reported in one Lebanese family. Skeletal anomalies associated with the condition include dorso-lumbar scoliosis, short stature, short neck and rhizomelic shortening of the limbs, while ocular findings include retinitis pigmentosa and strabismus. The genetic mutation associated with this disorder is yet to be discovered, however it is believed to follow an autosomal recessive pattern of inheritance.