Spondyloepimetaphyseal dysplasia with joint laxity type 1, with or without fractures (SEMDJL1; MIM 271640) and spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2; MIM 603546) are clinically related disorders. Common clinical findings include spondyloepimetaphyseal dysplasia, short stature, ligamentous laxity with joint dislocations, midface hypoplasia, and kyphoscoliosis. Patients with SEMDJL1, unlike the patients with SEMDJL2, have progressive severe kyphoscoliosis and respiratory compromise leading to early death. These patients may also have club foot, cleft palate, congenital heart disease, blue sclerae and fractures. Patients with SEMDJL2 typically have slender metacarpals and phalanges and the progressive degeneration of carpal bones. These findings are seen in only in older children and young adults. Laryngotracheomalacia is also a common finding in SEMDJL2. The primary differential diagnoses include Larsen syndrome (LRS1; MIM 150250), various types of Ehlers-Danlos syndrome,  pseudoachondroplasia (PSACH; MIM 177170) and spondyloepiphyseal dysplasia congenita (SEDC; MIM 183900). SEMDJL1 is an autosomal recessive disorder caused by mutations in the B3GALT6 gene, which codes for beta-1,3-galactosyltransferase 6. SEMDJL2 is an autosomal dominant disorder caused by mutations in the KIF22 gene encoding kinesin like protein 22.

Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.