SHORT is an acronym for a syndrome that involves short stature (S), hyperextensibility of joints and/or hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). The R component is characterized by hypoplasia of the iris as well as iris strands to the peripheral cornea. 50% of affected persons develop glaucoma and some patients have abnormally situated pupils, slit pupils, or multiple pupils. Other manifestations include a characteristic triangular face with progeroid appearance, small facial bones, deep-set eyes, mid-face hypoplasia, and micrognathia. This syndrome is sometimes associated with insulino-resistant diabetes, polycystic ovaries and hearing loss.

Diagnosis of SHORT syndrome based on clinical features and treatment is tailored to alleviate certain symptoms whenever possible.

Several lines of evidence indicate that SHORT syndrome has an autosomal dominant mode of inheritance, with a possible role for germline mosaicism resulting in the syndrome skipping one generation.

The search for the genetic cause of SHORT syndrome resulted in uncovering the potential involvement of the gene BMP4 in this disorder. Therefore, it has been suggested that SHORT syndrome might occur as a result of contiguous gene deletion requiring loss of one or more other genes as well as BMP4.