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Cold-induced sweating syndrome
Disease definition
Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.
ORPHA:157820
Classification level: DisorderSummary
Epidemiology
So far, six cases have been reported of Norwegian, Israeli and Canadian origin.
Clinical description
Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain and temperature.
Etiology
CISS is caused by mutations in the CRLF1 gene on chromosome 19p12 (CISS type 1). In one Australian man with no family history, the syndrome was associated with mutations in the CLCF1 gene on chromosome 11q13.3 (CISS type 2).
Genetic counseling
CISS is an autosomal recessive disorder.
Additional information
Further information on this disease
Patient-centred resources for this disease
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