Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013).
Genetic Heterogeneity of Spondyloepimetaphyseal Dysplasia with Joint Laxity
Also see SEMDJL2 (603546), caused by mutation in the KIF22 gene (603213) on chromosome 16p11, and SEMDJL3 (618395), caused by mutation in the EXOC6B gene (607880) on chromosome 2p13. [from
OMIM]