Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Name: |
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
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Description: |
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.
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ORPHAcode: |
83629
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Synonyms: |
H-SMD
Hypomyelination-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-SEMD syndrome
Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
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Analyte(s): | |
Created: |
04 Feb 2020 - 15:13
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Changed: |
22 Jun 2023 - 16:14
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