There are few observations of inflammatory synovitis in association wi
th specific chromosomal abnormalities in children or adults. We review
the genetic and rheumatic disease literature and describe the clinica
l, radiologic and pathologic features of a 14-year-old boy with trisom
y 5q, terminal 2p deletion, developmental delay, and a 5-year course o
f a polyarticular, symmetrical arthropathy similar to juvenile rheumat
oid arthritis. He was treated with multiple nonsteroidal antiinflammat
ory drugs, intramuscular gold, and oral methotrexate, but developed ir
idocyclitis, joint space narrowing with erosions, and multiple flexion
contractures; disease progression slowed after addition of chlorambuc
il. The frequency and manner of association of genetic disorders with
inflammatory arthropathies is presently unknown. Additionally, childre
n with 2 major disabilities often require aggressive medical intervent
ion to maximize their potential for adult independence.