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Paraplegia-brachydactyly-cone-shaped epiphysis syndrome

Disease definition

This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely.


  • Synonym(s):
    • Fitzsimmons-Guilbert syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Childhood, Infancy
  • ICD-10: G82.1
  • OMIM: 270710
  • UMLS: C0795942
  • MeSH: -
  • GARD: 2343
  • MedDRA: -

Additional information

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