All previously reported patients had mutations located in exons 8 and 9 of NKAP.<h4>Case presentation</h4>The proband, a 12-year-old Slavic male individual, presented with a Marfanoid habitus, tall stature, dolichostenomelia, scoliosis of the lumbar spine, moderate pectoral deformity, plano-valgus position of the feet, joint hypermobility, habitual dislocation of the right shoulder joint, arachnodactyly of the hands and feet, elongated face, muscle hypotonia, absence epilepsy, and borderline intelligence. Here, NKAP is linked to scoliosis.