Robinow syndrome is a very rare genetic disorder defined by vertebral segmentation, short-limbed-dwarfism, as well as distinct abnormalities in the face, head, and external genitalia. Robinow syndrome has two known forms, dominant and recessive. The dominant form is most common and present with moderate manifestations of known symptoms. Recessive Robinow, on the other hand, presents with more distinct skeletal abnormalities. Robinow syndrome is also alternatively called Robinow dwarfism, Robinow-Silverman-Smith syndrome, fetal face syndrome, fetal facies syndrome, mesomelic dwarfism-small genitalia syndrome, or acral dysostosis with facial and genital abnormalities.

A prenatal diagnosis can be determined through a fetal ultrasound, usually in the 19th week of pregnancy. Genetic counseling based on family history also plays an integral role in diagnosis and treatment.

The faces of affected patients share a distinct resemblance with the face of a fetus. The term “fetal facies” is used to describe this phenomenon, mainly in reference to widely spaced eyes in a small face. Other clinical signs include a prominent forehead, a short upturned nose, and a flat nasal bridge. A “tented” upper lip exposing dental crowding as well as ears set low on the head may also be observed. Abnormalities in the lower eyelid give the impression of protruding eyes which may or may not close fully. Also, affected patients suffer from dwarfism, showing small feet, short lower arms, and tiny hands. Toes and fingers tend to be abnormally short and bent. In some patients, thumbs are displaced. Vertebral segmentation abnormalities are also common among affected individuals. In males, the syndrome presents with an abnormally small penis (micropenis). In females, the clitoris and labia minora may be underdeveloped.

Robinow syndrome is believed to be a genetic disorder with both autosomal recessive and autosomal dominant forms. The former is associated with mutations in the ROR2 gene (of chromosome 9), which is primarily responsible for some aspects of cartilage and bone development. The latter has not been attributed to a specific gene, but believed to be caused by new mutations of ROR2.

robinowsyndrome