Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Paraplegia - brachydactyly - cone-shaped epiphysis

Orpha number ORPHA2823
Synonym(s) Fitzsimmons-Guilbert syndrome
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset No data available
ICD-10
  • G82.1
ICD-O -
OMIM
UMLS
  • C0795942
MeSH -
MedDRA -

Summary

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.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.