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.
Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986-1990). One patient was found to be suffering from SHORT syndrome.