/spondyloepimetaphyseal dysplasia, Bieganski type

spondyloepimetaphyseal dysplasia, Bieganski type

Rare Disease

MONDO:0010275

Also Known As

H-SMDhypomyelination-spondyloepimetaphyseal dysplasia syndromeleukoencephalopathy-SEMD syndromeleukoencephalopathy-metaphyseal chondrodysplasia syndromespondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessiveLKMCDSEMD X-linked with mental deteriorationSEMD, X-linked, with mental deteriorationleukoencephalopathy with metaphyseal chondrodysplasiaspondyloepimetaphyseal dysplasia X-linked with mental deteriorationspondyloepimetaphyseal dysplasia, X-linked, with mental deterioration

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.