Hypermobility syndrome in pediatric rheumatology

Hypermobility syndromes in pediatric rheumatology refer to conditions where children's joints move beyond their normal range of motion, often called "double-jointed" or "loose" joints. This syndrome can cause chronic musculoskeletal symptoms such as joint and muscle pain, which may worsen with activity or at night, but the joints are not inflamed. It is common in children, especially girls, and can be hereditary within families. Hypermobility syndromes, or joint hypermobility syndrome (JHS), are characterized by an abnormally increased range of joint movement caused by excessive laxity in soft tissues, such as ligaments and capsules. In pediatric populations, generalized joint hypermobility (GJH) is common, and a Beighton score of ۶ or higher is often used as a diagnostic threshold, which is higher than in adults due to the naturally increased flexibility in children. Recent diagnostic frameworks classify hypermobile children based on phenotypic and symptomatic profiles, which helps differentiate them from related hypermobility spectrum disorders (HSD) or inherited connective tissue disorders like hypermobile Ehlers-Danlos syndrome (hEDS). Management in children emphasizes multidisciplinary approaches, including physiotherapy to increase dynamic muscle control, proprioceptive training, and pain management, while avoiding excessive reliance on passive supports due to underlying laxity. Children with hypermobility syndrome often present with joint pain, abnormal gait, joint twisting, or occasional dislocations. Related features may include poor coordination, clumsiness, soft skin, easy bruising, and some may have related conditions such as scoliosis or learning difficulties. Diagnosis is primarily clinical, and tools like the Beighton score are used to assess generalized joint hypermobility. This syndrome encompasses a range of phenotypes, from asymptomatic hyperactivity to symptomatic hyperactivity spectrum disorders. Early detection is important for reducing long-term complications and optimizing function. Studies have shown that children with hypermobility are at higher risk for orthopedic complications such as scoliosis, temporomandibular joint dysfunction, and lower bone density. Also, in some cases, the prevalence of gastrointestinal symptoms and autonomic disorders. Generally, while undiagnosed or unmanaged hypermobility in children is often not disabling, it can lead to chronic problems, highlighting the importance of early intervention and education for families and physicians.