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Cold-induced sweating syndrome 1

Synonyms
CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CRLF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome; Crisponi syndrome; Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Cold-Induced Sweating Syndrome Including Crisponi Syndrome
Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of facial and oropharyngeal muscles when crying or being handled with puckering of lips and drooling of foamy saliva often associated with laryngospasm and respiratory distress; excessive startling and opisthotonus-like posturing with unexpected tactile or auditory stimuli; poor suck reflex and severely impaired swallowing; and a scaly erythematous rash. During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including nervousness or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. Progressive thoracolumbar kyphoscoliosis occurs, requiring intervention in the second decade.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Angelika F Hahn
Per Morten Knappskog
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Available tests

19 tests are in the database for this condition.

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Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CISS, CISS1, CLF, CLF-1, NR6, zcytor5, CRLF1
    Summary: cytokine receptor like factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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