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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. By 2002, over 100 cases had been documented and introduced into medical literature.[1]
Two forms of the disorder exist, dominant and recessive, of which the former is more common. Patients with the dominant version often suffer moderately from the aforementioned symptoms. Recessive cases, on the other hand, are usually more physically marked, and individuals may exhibit more skeletal abnormalities.[2] Interestingly, the recessive form is particularly frequent in Turkey.[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.[4] Clusters of the autosomal recessive form have also been documented in Oman and Czechoslovakia.[1]
The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome,[5] fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome.[6] The recessive form was previously known as Covesdem syndrome.
Robinow noted the resemblance of affected patients’ faces to that of a fetus, using the term “fetal facies” to describe the appearance of a small face and widely spaced eyes.[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.
Though the eyes do not protrude, abnormalities in the lower eyelid may give that impression. Surgery may be necessary if the eyes cannot close fully. In addition, the ears may be set low on the head or have a deformed pinna.
Patients suffer from dwarfism, short lower arms, small feet, and small hands. Fingers and toes may also be abnormally short and laterally or medially bent. The thumb may be displaced and some patients, notably in Turkey, experience ectrodactyly.[1] All patients often suffer from vertebral segmentation abnormalities. Those with the dominant variant have, at most, a single butterfly vertebra.[2] Those with the recessive form, however, may suffer from hemivertebrae, vertebral fusion, and rib anomalies. Some cases resemble Jarcho-Levin syndrome or spondylocostal dysostosis.
Genital defects characteristically seen in males include a micropenis with a normally developed scrotum and testes. Sometimes, testicles may be undescended, or the patient may suffer from hypospadias.[2] Female genital defects may include a reduced size clitoris and underdeveloped labia minora. Infrequently, the labia majora may also be underdeveloped.[2] Some research has shown that females may experience vaginal atresia or haematocolpos.[3]
The autosomal recessive form of the disorder tends to be much more severe. Examples of differences are summarized in the following table:[7]
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