spondyloepimetaphyseal dysplasia, Bieganski type
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.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
H-SMD
exact
LKMCD
related
SEMD X-linked with mental deterioration
related
hypomyelination-spondyloepimetaphyseal dysplasia syndrome
exact
leukoencephalopathy with metaphyseal chondrodysplasia
related
leukoencephalopathy-SEMD syndrome
exact
leukoencephalopathy-metaphyseal chondrodysplasia syndrome
exact
spondyloepimetaphyseal dysplasia X-linked with mental deterioration
related
spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive
exact
SPAC26F1.14c