Cold-induced sweating syndrome 1

Common Name(s)

Cold-induced sweating syndrome 1

Cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {5:Hahn et al., 2010}). Genetic Heterogeneity of Cold-Induced Sweating Cold-induced sweating syndrome-2 (CISS2; {610313}), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene ({607672}) on chromosome 11q13.
 

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Scientific Literature

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The terms "Cold-induced sweating syndrome 1" returned 1 free, full-text research articles on human participants. First 3 results:

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
 

Author(s): Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gudrun Nurnberg, Gianluca Usala, Manuela Uda, Marco Masala, Wolfgang Hohne, Christian Becker, Mara Marongiu, Francesca Chiappe, Robert Kleta, Anita Rauch, Bernd Wollnik, Friedrich Strasser, Thomas Reese, Cornelis Jakobs, Gerd Kurlemann, Antonio Cao, Peter Nurnberg, Frank Rutsch

Journal: Am. J. Hum. Genet.. 2007 May;80(5):971-81.

 

Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling neonatal tetanus, large face, broad nose, anteverted nares, camptodactyly, hyperthermia, and sudden death in most cases. We performed ...

Last Updated: 16 Apr 2007

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The terms "Cold-induced sweating syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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