Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 (SEMDJL1) is a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, and progressive intractable spinal malalignment. Affected children are born with a typical facies which includes a characteristic oval shape, a long upper lip, protruberant eyes, and sometimes, mild sclera blueness. About a third of the patients have a cleft palate, while a similar proportion also has structural cardiac defects, like VSD, ASD, and myocardial infarction. Other abnormalities like mental retardation, myopia, Hirschsprung's disease, and unilateral megaureter may also be seen in some patients. Radiologically, severe and progressive kyphoscoliosis and platyspondyly is seen. The vertebral bodies are biconvex with irregular endplates. Epiphyseal ossification is delayed in the long bones, and the metaphyses are wide and irregular, with a coarse trabecular pattern. Iliac wings are flared, sacro-sciatic notches are short, distal radius and ulna are expanded, tubular limb bones are short, and traction exostoses may be present. Coxa valga with hip dislocation is also seen.Differential diagnoses of the condition include conditions such as diastrophic dysplasia, Larsen syndrome, mucopolysaccharidoses, and other spondyloepimetaphyseal dysplasias.