trichorhinophalangeal syndrome type I Charlevoix-Saguenay spastic ataxia obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome https://github.com/monarch-initiative/mondo/issues/1686 true Fitzsimmons-Guilbert syndrome MESH:C537938 Orphanet:2823 OBSOLETE. 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. OMIM:270710 MONDO:0010045 Obsolete in OMIM and Orphanet. intellectual disability, autosomal dominant 41