Isolated humero-radio-ulnar synostosis

Isolated humero-radio-ulnar synostosis is a rare congenital skeletal malformation characterized by bony fusion (synostosis) involving the humerus, radius, and ulna at the elbow joint. This condition affects the musculoskeletal system, specifically the upper limb, and results in significant limitation or complete absence of elbow joint movement. The fusion may be unilateral (affecting one arm) or bilateral (affecting both arms). The condition is present from birth and is typically recognized in infancy or early childhood when limited range of motion at the elbow becomes apparent. The elbow is usually fixed in a position of extension or partial flexion, which can substantially impair daily activities such as feeding, dressing, and personal hygiene, particularly when bilateral. This condition occurs as an isolated finding without other associated skeletal or systemic anomalies, distinguishing it from syndromic forms of elbow synostosis that may occur in conditions such as antecubital pterygium or other complex skeletal dysplasias. Radiographic imaging confirms the bony fusion between the humerus and the proximal radius and/or ulna. Treatment is primarily supportive and may include occupational therapy to maximize functional adaptation. Surgical intervention, including osteotomy to reposition the forearm in a more functional angle, may be considered in selected cases, particularly when the fixed position of the elbow significantly impairs function. However, surgical outcomes can be variable, and restoration of full elbow mobility is generally not achievable. Adaptive devices and rehabilitation strategies play an important role in optimizing quality of life for affected individuals.

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