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Robinow syndrome is an extremely rare genetic disorder. It is characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described by human geneticist Meinhard Robinow, Full text along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children in 1969. By 2002, over 100 cases had been documented and introduced into medical literature.

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.Robinow Syndrome Foundation. General Information. Accessed 19 May 2006. Interestingly, 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.

The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndromeNational Organization for Rare Disorders, Inc. Robinow Syndrome. Last modified 15 May 2006. Accessed 19 May 2006., fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome.Jablonski's Syndromes Database. Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. Accessed 20 May 2006.

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National Library of Medicine - The synonyms of Robinow syndrome, a summary and a list of major features.

NORD: Robinow Syndrome - Offers a general discussion, the synonyms and further resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]

Robinow Syndrome Foundation - Details about the organization as well as the disease. Includes general information, a survey, newsletter and photos.

Yahoo! Groups - A new email group for sharing and learning about Robinow syndrome. Join, post and read from this site.
Meta Description: [ robinow_syndrome: Robinow Syndrome ]

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