Jornal de relatos de casos clínicos

SHORT Syndrome. Rare Genetic Condition

Abstract

Renata Markosyan

SHORT syndrome is a rare inherited condition and incidence of patients is unknown. Multiple anomalies (acronym SHORT) whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which are the main manifestations of the disease. The diagnosis of SHORT syndrome is based on physical findings, X-rays, and molecular genetic testing. The aim was to present a case extremely rare genetic condition characterised by short stature, dysmorphic features. Our patient shows most common signs and symptoms of SHORT syndrome except Rieger anomaly, lipodystrophy, hyper extensibility of joints. Such anomaly is considered as typical (element of set of symptoms listed in acronym SHORT) but not necessary to diagnose such syndrome.