Spondyloepimetaphyseal dysplasia, Bieganski type
Spondyloepimetaphyseal dysplasia, Bieganski type
Definition
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.
Also known as H-SMD, hypomyelination-spondyloepimetaphyseal dysplasia syndrome, leukoencephalopathy-metaphyseal chondrodysplasia syndrome, leukoencephalopathy-SEMD syndrome, spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive — per MONDO