Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Synonyms: H-SMD | Hypomyelination-spondyloepimetaphyseal dysplasia syndrome | Leukoencephalopathy-SEMD syndrome | Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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