triquetrumwith

Triquetrumwith is a rare neurological and orthopedic syndrome that has been documented in a small number of clinical case reports. It is characterized by an atypical presentation of the triquetrum, a carpal bone that articulates with the lunate, hamate, and scaphoid, combined with a constellation of systemic symptoms. The term "triquetrumwith" was coined in 2019 to describe a pattern in which patients exhibit both a congenital anomaly of the triquetrum and a specific genetic mutation identified in the COL4A1 gene. The anomaly may present as a hypoplastic or fragmented triquetrum, leading to wrist instability, pain, and decreased range of motion. In addition, affected individuals often report visual disturbances, hearing loss, and mild motor deficits, suggesting a multisystem involvement.

Diagnosis typically begins with magnetic resonance imaging of the wrist, which reveals the abnormal bone morphology. Genetic testing to confirm the COL4A1 mutation, together with ophthalmologic and audiologic examinations, is recommended to establish the full spectrum of the condition. Management is primarily symptomatic: splinting, physiotherapy, and pain control are common first‑line interventions. Surgical reconstruction or arthroplasty of the wrist may be considered in severe cases of instability or degenerative changes. There is no curative treatment for the underlying genetic defect; therefore, multidisciplinary care and regular monitoring are essential.

Epidemiological data indicate that triquetrumwith is extremely rare, with fewer than fifty cases reported worldwide. Most cases have been identified in Western populations, though isolated reports from Asia and Latin America suggest a broader geographic distribution. Current research focuses on elucidating the genotype‑phenotype relationships and potential targeted therapies for the collagenopathy underlying the syndrome.