Paula and Bobby
Parents of Lillie
Cold-Induced Sweating syndrome
What is Cold-Induced Sweating syndrome?
This rare disease is a genetic condition characterized by excessive sweating, affecting mainly the chest, face, arms and trunk of the body, brought on by a cold or ambient temperature.
There are just 6 cases of the syndrome diagnosed to date: involving individuals of Norwegian, Israeli and Canadian descent.
What gene changes cause Cold-Induced Sweating syndrome?
Mutations in the CRLF1 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Cold-Induced Sweating syndrome?
One of the main identifying symptoms of the condition is profuse sweating in cold temperatures. Individuals may also experience extreme sensitivity to pain and cold temperatures.
Other features of the syndrome include a high arched palate, nasal voice, a depressed nasal bridge, a broad nose, long philtrum, and a large face with full cheeks.
Seizures and hypotonia (low muscle tone) are also reasonably common symptoms of the syndrome.
Sometimes symptoms associated with the syndrome may be more severe, including feeding difficulties in infancy, and sudden cardiac death.
How does someone get tested for Cold-Induced Sweating syndrome?
The initial testing for Cold-induced sweating syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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