Scheuermann Disease

Description

Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992).

Clinical Features

Halal et al. (1978) reported 5 families in which multiple persons had Scheuermann juvenile kyphosis in a pattern consistent with autosomal dominant inheritance. One was known as a 'round back family.' In some, Scheuermann disease was discovered when x-rays were taken following sports injuries. Evident round back deformity usually dated from about age 15.

Findlay et al. (1989) described this disorder in males of 3 successive generations. McKenzie and Sillence (1992) reported 3 families, each with at least 3 affected generations. One family had 27 affected individuals. Two of the families had instances of male-to-male transmission.

Kewalramani et al. (1976) described a family in which both Charcot-Marie-Tooth disease and Scheuermann disease were segregating.

Population Genetics

Findlay et al. (1989) stated that Scheuermann disease has a population incidence of 0.4% to 8.3%, depending on whether the diagnosis was based, respectively, on clinical or radiographic criteria, since not all patients are symptomatic.

Inheritance

Axenovich et al. (2001) analyzed the mode of inheritance of Scheuermann disease in a sample of 90 pedigrees derived from the Siberian population. The transmission probability model was used to detect major gene effect. The results supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls. A high frequency of idiopathic scoliosis in the families with Scheuermann disease (0.08 vs 0.01-0.02 in the general population) was observed, leading the authors to suggest that scoliosis and Scheuermann disease may be genetically related.

Mapping

Exclusion Studies

McKenzie and Sillence (1992) excluded linkage of Scheuermann disease in 3 large pedigrees to the Duffy blood group (110700) on chromosome 1q21-q22 and to the COL1A2 gene (120160) on chromosome 7q22.