Tel Hashomer camptodactyly syndrome

Tel Hashomer camptodactyly syndrome is an extremely rare genetic disorder characterized by the combination of camptodactyly (permanent flexion contractures of the fingers), muscular hypoplasia (underdevelopment of muscles), and skeletal abnormalities. The condition was first described in patients from the Tel Hashomer Medical Center in Israel. Key clinical features include camptodactyly affecting multiple fingers, muscle wasting and weakness, short stature, and distinctive facial features. Affected individuals may also present with spinal abnormalities such as scoliosis or kyphosis, joint limitations, and connective tissue involvement. The musculoskeletal system is primarily affected, with patients often showing generalized muscle hypoplasia and reduced muscle bulk, particularly in the limbs. The syndrome may also be associated with mitral valve prolapse and other connective tissue manifestations, suggesting a broader involvement beyond the musculoskeletal system. Intelligence is typically normal in affected individuals. The condition is present from birth, with camptodactyly and muscular findings being apparent in the neonatal or early infantile period. Diagnosis is based on clinical findings, as no specific genetic locus has been definitively identified. There is no cure for Tel Hashomer camptodactyly syndrome, and management is supportive, focusing on physical therapy to maximize joint mobility, orthopedic interventions for skeletal deformities, and monitoring for cardiac involvement. Surgical correction of finger contractures may be considered in some cases but outcomes vary.

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