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Cold-induced sweating syndrome

MedGen UID:
321950
Concept ID:
C1832409
Disease or Syndrome
Synonyms: CNTF receptor-related disorders; Crisponi syndrome; Sohar-Crisponi syndrome
SNOMED CT: Cold-induced sweating syndrome (702363009); Ciliary neurotrophic factor receptor-related disorder (702363009); Sohar-Crisponi syndrome (702363009); Crisponi syndrome (725097006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: KLHL7, CLCF1, CRLF1
 
Monarch Initiative: MONDO:0015526
OMIM®: 272430
OMIM® Phenotypic series: PS272430
Orphanet: ORPHA157820

Disease characteristics

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. [from GeneReviews]
Authors:
Angelika F Hahn  |  Per Morten Knappskog   view full author information

Additional description

From MedlinePlus Genetics
Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life.

Infants with Crisponi syndrome have unusual facial features, including a flat nasal bridge, upturned nostrils, a long space between the nose and upper lip (philtrum), a high arched roof of the mouth (palate), a small chin (micrognathia), and low-set ears. The muscles in the lower part of the face are weak, leading to severe feeding difficulties, excessive drooling, and breathing problems. Other physical abnormalities associated with Crisponi syndrome include a scaly skin rash, an inability to fully extend the elbows, overlapping fingers and tightly fisted hands, and malformations of the feet and toes. Affected infants startle easily and often tense their facial muscles into a grimace-like expression. By six months of age, infants with Crisponi syndrome develop unexplained high fevers that increase the risk of seizures and sudden death.

Many of the health problems associated with Crisponi syndrome improve with time, and affected individuals who survive the newborn period go on to develop other features of cold-induced sweating syndrome in early childhood. Within the first decade of life, affected individuals begin having episodes of profuse sweating (hyperhidrosis) and shivering involving the face, torso, and arms. The excessive sweating is usually triggered by exposure to temperatures below about 65 or 70 degrees Fahrenheit, but it can also be triggered by nervousness or eating sugary foods. Paradoxically, affected individuals tend not to sweat in warmer conditions, instead becoming flushed and overheated in hot environments.

Adolescents with cold-induced sweating syndrome typically develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). Although infants may develop life-threatening fevers, affected individuals who survive infancy have a normal life expectancy.  https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Cold-induced sweating syndrome in Orphanet.

Professional guidelines

PubMed

Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L
Clin Genet 2020 Jan;97(1):209-221. Epub 2019 Sep 16 doi: 10.1111/cge.13639. PMID: 31497877

Recent clinical studies

Etiology

Larsen JV, Kristensen AM, Pallesen LT, Bauer J, Vægter CB, Nielsen MS, Madsen P, Petersen CM
Mol Cell Biol 2016 Apr;36(8):1272-86. Epub 2016 Mar 31 doi: 10.1128/MCB.00917-15. PMID: 26858303Free PMC Article
Testani E, Della Marca G, La Torraca I, Vollono C, Crisponi G, Zampino G, Valeriani M
Muscle Nerve 2016 Jun;54(1):100-3. Epub 2016 Feb 26 doi: 10.1002/mus.24976. PMID: 26565815
Hahn AF, Waaler PE, Kvistad PH, Bamforth JS, Miles JH, McLeod JG, Knappskog PM, Boman H
J Neurol Sci 2010 Jun 15;293(1-2):68-75. Epub 2010 Apr 18 doi: 10.1016/j.jns.2010.02.028. PMID: 20400119
Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F
Am J Hum Genet 2007 May;80(5):971-81. Epub 2007 Mar 30 doi: 10.1086/516843. PMID: 17436252Free PMC Article

Diagnosis

Kolkiran A, Ürel-Demir G, Şimşek-Kiper PÖ, Utine GE
Eur J Med Genet 2021 Jul;64(7):104229. Epub 2021 Apr 25 doi: 10.1016/j.ejmg.2021.104229. PMID: 33910095
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L
Clin Genet 2020 Jan;97(1):209-221. Epub 2019 Sep 16 doi: 10.1111/cge.13639. PMID: 31497877
Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L
Clin Genet 2019 May;95(5):607-614. Epub 2019 Mar 28 doi: 10.1111/cge.13532. PMID: 30859550
Tüysüz B, Kasapçopur O, Yalçınkaya C, Işık Haşıloğlu Z, Knappskog PM, Boman H
Brain Dev 2013 Jun;35(6):596-601. Epub 2012 Sep 29 doi: 10.1016/j.braindev.2012.08.011. PMID: 23026229
Hahn AF, Jones DL, Knappskog PM, Boman H, McLeod JG
J Neurol Sci 2006 Dec 1;250(1-2):62-70. Epub 2006 Sep 6 doi: 10.1016/j.jns.2006.07.001. PMID: 16952376

Therapy

Tüysüz B, Kasapçopur O, Yalçınkaya C, Işık Haşıloğlu Z, Knappskog PM, Boman H
Brain Dev 2013 Jun;35(6):596-601. Epub 2012 Sep 29 doi: 10.1016/j.braindev.2012.08.011. PMID: 23026229
Hahn AF, Waaler PE, Kvistad PH, Bamforth JS, Miles JH, McLeod JG, Knappskog PM, Boman H
J Neurol Sci 2010 Jun 15;293(1-2):68-75. Epub 2010 Apr 18 doi: 10.1016/j.jns.2010.02.028. PMID: 20400119
Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F
Am J Hum Genet 2007 May;80(5):971-81. Epub 2007 Mar 30 doi: 10.1086/516843. PMID: 17436252Free PMC Article
Hahn AF, Jones DL, Knappskog PM, Boman H, McLeod JG
J Neurol Sci 2006 Dec 1;250(1-2):62-70. Epub 2006 Sep 6 doi: 10.1016/j.jns.2006.07.001. PMID: 16952376
Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H
Am J Hum Genet 2003 Feb;72(2):375-83. Epub 2002 Dec 31 doi: 10.1086/346120. PMID: 12509788Free PMC Article

Prognosis

Piras R, Chiappe F, Torraca IL, Buers I, Usala G, Angius A, Akin MA, Basel-Vanagaite L, Benedicenti F, Chiodin E, El Assy O, Feingold-Zadok M, Guibert J, Kamien B, Kasapkara CS, Kiliç E, Boduroğlu K, Kurtoglu S, Manzur AY, Onal EE, Paderi E, Roche CH, Tümer L, Unal S, Utine GE, Zanda G, Zankl A, Zampino G, Crisponi G, Crisponi L, Rutsch F
Hum Mutat 2014 Apr;35(4):424-33. Epub 2014 Mar 6 doi: 10.1002/humu.22522. PMID: 24488861
Herholz J, Meloni A, Marongiu M, Chiappe F, Deiana M, Herrero CR, Zampino G, Hamamy H, Zalloum Y, Waaler PE, Crisponi G, Crisponi L, Rutsch F
Eur J Hum Genet 2011 May;19(5):525-33. Epub 2011 Feb 16 doi: 10.1038/ejhg.2010.253. PMID: 21326283Free PMC Article
Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H
Proc Natl Acad Sci U S A 2006 Jun 27;103(26):10068-73. Epub 2006 Jun 16 doi: 10.1073/pnas.0509598103. PMID: 16782820Free PMC Article

Clinical prediction guides

Yilmaz Gulec E, Turgut GT, Gezdirici A, Karaman V, Ozturk FN, Avci S, Kalayci T, Senturk L, Ayaz A, Kayserili H, Uyguner ZO, Altunoğlu U
Clin Genet 2022 Sep;102(3):201-217. Epub 2022 Jul 12 doi: 10.1111/cge.14177. PMID: 35699517
Hahn AF, Waaler PE, Kvistad PH, Bamforth JS, Miles JH, McLeod JG, Knappskog PM, Boman H
J Neurol Sci 2010 Jun 15;293(1-2):68-75. Epub 2010 Apr 18 doi: 10.1016/j.jns.2010.02.028. PMID: 20400119
Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y
Am J Med Genet A 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315. PMID: 20186812
Hahn AF, Jones DL, Knappskog PM, Boman H, McLeod JG
J Neurol Sci 2006 Dec 1;250(1-2):62-70. Epub 2006 Sep 6 doi: 10.1016/j.jns.2006.07.001. PMID: 16952376
Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H
Am J Hum Genet 2003 Feb;72(2):375-83. Epub 2002 Dec 31 doi: 10.1086/346120. PMID: 12509788Free PMC Article

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