Crisponi syndrome/CISS1, is an autosomal recessiveciliary neurotrophic factor receptor (CNTFR)-relatedgenodermatosis caused in 95% of cases by mutations inCRLF1 on chromosome 19p13. The CNTFR pathwayis important for CNS development. Crisponi syndrome/CISS1 can be suspected in the presence of the followingclinical triad: camptodactyly with fisted hands, intermittenthyperthermia and muscular contractions with feedingdifficulties.
|Numero di pagine||3|
|Stato di pubblicazione||Published - 2020|
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine