Roifman syndrome

Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. [Source: Wikipedia ]

Synonyms
Spondyloepiphyseal dysplasia - retinal dystrophy - immunodeficiency
OrphaNet reference
Roifman syndrome 
May Cause
Spondyloepiphyseal dysplasia