Cold-induced sweating syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 157820
Definition
Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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30%-79% of people have these symptoms.
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| Plantar crease between first and second toes |
| Limitation of joint mobility |
| Cognitive impairment |
| High palate |
5%-29% of people have these symptoms.
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| Cerebral hemorrhage |
| Intellectual disability |
| Pulmonary capillary hemangiomatosis |
| Olfactory lobe agenesis |
| Micrognathia |
| Narrow mouth |
| Seizures |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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