UFSP2 and spondyloepimetaphyseal dysplasia: Patients with autosomal dominant Beukes hip dysplasia have a Y290H variant in UFSP2.12 Spondyloepimetaphyseal dysplasia, Di Rocco type (SEMDDR) occurred in an Italian family with a D426A variant in UFSP211 and a Chinese patient with a H428R variant.13 None of the reported patients with these diseases had neurological impairments or seizures.