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,[1] along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children.

[3] However, this can likely be explained by a common ancestor, as these patients' families can be traced to a single town in Eastern Turkey.

[1] Clinical features also may include a short, upturned nose, a prominent forehead, and a flat nasal bridge.

The upper lip may be "tented",[1] exposing dental crowding, "tongue tie", or gum hypertrophy.

[1] Genital defects characteristically seen in males include a micropenis with a normally developed scrotum and testes.

[2] Female genital defects may include a reduced size clitoris and underdeveloped labia minora.

Males who have reproduced have all had the autosomal dominant form of the disorder; the fertility of those with the recessive variant is unknown.

[1] 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.

[1]Robinow syndrome is suspected by clinical findings and family history and confirmed by typical ROR-2 biallelic pathogenic variants identified by molecular genetic testing.

[12] The disorder was first described in 1969 by the German–American human geneticist Meinhard Robinow (1909–1997),[1] along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children.