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Article

Crisponi/CISS1 syndrome: A case series.

American journal of medical genetics. Part A - 1 May 2016

Alhashem Amal M, Majeed-Saidan Muhammad Ali, Ammari Amer N, Alrakaf Maha S, Nojoom Maha, Maddirevula Sateesh, Faqeih Eissa, Alkuraya Fowzan S, Garne Ester, Kurdi Ahmad M

Abstract excerpt

Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. The syndrome is caused by biallelic mutations in CRLF1 or, much less commonly, CLCF1. Although genotype/phenotype correlation has been elusive, it...

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Source

Identifiers

PMID: 26804344
DOI: 10.1002/ajmg.a.37569

Genes

CRLF1
CLCF1
COG6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Crisponi/CISS1 syndrome: A case series.PMID 26804344Read ↗

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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: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.Semantic proximity Read ↗

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.Semantic proximity Read ↗

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

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