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Article

Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2013

Uzunalic N, Zenciroglu A, Beken S, Piras R, Dilli D, Aydin B, Chiappe F, Okumus N, Crisponi L

Abstract excerpt

SUMMARY: Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Recently, it has been demonstrated that CRLF1 (cytokine receptor-like factor 1) gene mutation is associated with CS. Here we report a case of CS with a new...

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Source

Identifiers

PMID: 24032286

Genes

CRLF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.PMID 24032286Read ↗

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Crisponi syndrome: a new case with additional features and new mutation in CRLF1.Semantic proximity Read ↗

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Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.Semantic proximity Read ↗

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.Semantic proximity Read ↗

Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.Semantic proximity Read ↗

Crisponi/CISS1 syndrome: A case series.Semantic proximity Read ↗

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.Semantic proximity Read ↗

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.Semantic proximity Read ↗

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