Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa

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

Etimology
This condition was first described in 2006 by Megarbane et al. when they described 2 cousins from a consanguineous Labenese family. Only one of them had amelogenesis imperfecta.