本文对新发现的沙依瓦克病(Sayinak disease)进行了家系追踪调查,共5代129人,分两个家系,发现患者21人,患病率为16.28％。连续3代均有患者,具有家族聚积现象。沙依瓦克病无垂直的传递,患者双亲表型正常,男女患者基本均等,符合常染色体隐性遗传。患者具有以幼年起病(3～5岁),隐匿进展,四肢脊柱等负重关节呈多形性,无痛性、致残性畸形,身材矮小,智力与头颅正常,无内脏损害等特点。 In this paper, a systematic pedigree investigation was carried out on the newly discovered Sayinak disease in a total of 5 generations of 129 people in two families and 21 patients were found with a prevalence of 16.28%. 3 consecutive generations of patients, with the phenomenon of familial accumulation. Sjavac disease without vertical transmission, the patient’s parents phenotype normal, basically equal between men and women, in line with autosomal recessive inheritance. Patients with juvenile onset (3 to 5 years of age), occult progress, limb spine and other load-bearing joints were pleomorphic, painless, disabling deformity, short stature, mental and head normal, no visceral damage and so on.