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Spastic paraplegia-facial-cutaneous lesions syndrome

Disease definition

A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.

ORPHA:2819

Classification level: Disorder
  • Synonym(s):
    • Bahemuka-Brown syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: G11.4
  • OMIM: -
  • UMLS: C2931617
  • MeSH: -
  • GARD: 806
  • MedDRA: -

Detailed information

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