Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is characterized by ocular/visual, dental and osseous anomalies. Only 2 cases have been described in medical literature.
Signs and symptoms
The following is a list of symptoms that this disorder causes:
Amelogenesis imperfecta Biconcave vertebrae Wide ribs Photophobia Deltoid tuberosity prominence Reduced visual acuity Limb rhizomelia Cone-rod dystrophy Scoliosis Shortening of the clavicles Shortening of the ribs Short neck Shortening of the humerus Strabismus Vision impairment Short radius bone epiphysis Retinitis pigmentosa Short stature
Etymology This condition was first described in 2006 by Megarbane et al. when they described two cousins from a consanguineous Lebanese family. Only one of them had amelogenesis imperfecta.
References