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. By 2002, over 100 cases had been documented and introduced into medical literature.
* Vertebral anomalies * Short stature * Large head * Large anterior fontanel * Frontal bossing
Genetic studies have linked the autosomal recessive form of the disorder to the ROR2 gene on position 9 of the long arm of chromosome 9. The gene is responsible for aspects of bone and cartilage growth. This same gene is involved in causing autosomal dominant brachydactyly B. The autosomal dominant form has not been linked to a specific gene, though those related to ROR2 are being studied. This form is often caused by new mutations. Alternatively, it may be passed from a parent who is so mildly affected by the disorder that he or she has not been diagnosed.