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Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Disease 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.

ORPHA:83629

Classification level: Disorder
  • Synonym(s):
    • H-SMD
    • Hypomyelination-spondyloepimetaphyseal dysplasia syndrome
    • Leukoencephalopathy-SEMD syndrome
    • Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood, Infancy
  • ICD-10: G37.8
  • OMIM: 300232
  • UMLS: C4304743
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

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Specialised Social Services

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