Robinow syndrome

The Robinow syndrome is usually autosomal dominant, rare autosomal recessive malformation syndrome, which occurs at a frequency of 1:500,000 and a large skull with a small face (like a fetus), short stature and a Mesomelic dysplasia of the forearms and boys is characterized by a micro penis.

Synonyms are: Robinow - Silverman -Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome.

First described in 1969 was the German - American human geneticist Meinhard Robinow (* 1909), along with Frederic N. Silverman and Hugo D. Smith in the American Journal of Diseases of Children. In 2002, a total of 100 case reports in the medical literature were known.

In the ICD- 10, it is classified under " Congenital malformation syndromes predominantly associated with short stature " as Q87.1 with.