Robinow syndrome

Rare genetic disorder characterized by a fetal face

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. The recessive form is particularly frequent in Turkey. However, this can likely be explained by a common ancestor, as these patients' families can be traced to a single town in Eastern Turkey. Clusters of the autosomal recessive form have also been documented in Oman and Czechoslovakia. fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism small genitalia syndrome. The recessive form was previously known as Covesdem syndrome.

Medical conditions include frequent ear infection, hearing loss, hypotonia, developmental problems, respiratory problems, eating difficulties, light sensitivity, and esophageal reflux. In addition, a number of patients have suffered from cystic dysplasia of the kidney. In addition, though intelligence is generally normal, around 15% of patients show developmental delays. All of these genes belong to the same metabolic pathway – the WNT system. This system is involved in secretion for various compounds both in the fetus and in the adult. A fetal ultrasound can offer prenatal diagnosis 19 weeks into pregnancy. However, the characteristics of a fetus suffering from the milder dominant form may not always be easy to differentiate from a more serious recessive case. Genetic counseling is an option given the availability of a family history.

Treatment of the various manifestations will usually be addressed by a multidisciplinary team.

The disorder was first described in 1969 by the German–American Human Geneticist Meinhard Robinow (1909–1997), 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.