Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
- Authors: Schierz I.A.M.; Serra G.; Antona V.; Persico I.; Corsello G.; Piro E.
- Publication year: 2020
- Type: Articolo in rivista
- OA Link: http://hdl.handle.net/10447/429136
Crisponi syndrome/CISS1, is an autosomal recessive ciliary neurotrophic factor receptor (CNTFR)-related genodermatosis caused in 95% of cases by mutations in CRLF1 on chromosome 19p13. The CNTFR pathway is important for CNS development. Crisponi syndrome/ CISS1 can be suspected in the presence of the following clinical triad: camptodactyly with fisted hands, intermittent hyperthermia and muscular contractions with feeding difficulties.