SHORT syndrome is a very rare genetic disease that is distinguished by the simultaneous presence of a short stature, prominent hyperextensibility of the joints, inguinal hernia, ocular abnormalities, lipodystrophy and a delay in tooth eruption. The diagnosis can be made only after a thorough physical examination that will identify all signs and symptoms, as genetic testing is scarcely available.
Since its initial description more than 50 years ago, SHORT syndrome is an acronym composed of the five main clinical characteristics encountered in the few patients reported in the medical literature so far    :
In addition to the above mentioned signs and symptoms, several other features are described in this small group of individuals: facial anomalies (micrognathia, a triangular appearance of the face, megalocornea, anteverted ears, and hypoplasia of the nasal alae), lipodystrophy (near complete absence of subcutaneous fat), insulin resistance and eventual development of diabetes mellitus, hearing impairment, clinodactyly, and normal intellectual development, which may be particularly important in distinguishing SHORT syndrome from many other genetic diseases that affect mental development   .
Given the rarity of the condition (only 20 cases described until the end of the 20th century), the diagnosis of SHORT syndrome is difficult. But because clinical suspicion can only be raised after a thorough physical examination and a properly obtained patient history, these two steps must be regarded as essential in order to make the diagnosis. Identification of the five cardinal features that constitute the SHORT acronym will almost undoubtedly confirm the diagnosis. On the other hand, several reports imply that an autosomal dominant pattern of inheritance is the mode of SHORT syndrome transmission, although many cases have developed following de novo mutations without any association suggesting a familial event   . Nevertheless, a comprehensive family history should be obtained. The cause of SHORT syndrome was unknown until recently, but the discovery of phosphatidylinositol 3 kinase (PI3K) mutations in practically all individuals has opened up the possibility of genetic testing in patients with the typical clinical features of SHORT   . These tests are scarcely available, however, which is why the diagnosis rests on clinical criteria. Mutations in BMP4 and the PITX family of genes have also been described in certain studies, but their roles are yet to be confirmed  .