SNP Shot: Genomic Insights

Cold-induced sweating syndrome is a condition marked by irregularities in body temperature regulation and various other physical abnormalities. In early infancy, these characteristics are often referred to as Crisponi syndrome. Initially considered separate disorders, it is now largely accepted that cold-induced sweating syndrome and Crisponi syndrome represent the same condition at different stages of life.

Infants diagnosed with Crisponi syndrome exhibit distinctive facial features, such as a flattened nasal bridge, upturned nostrils, an elongated philtrum (the area between the nose and upper lip), a highly arched palate, micrognathia (a small chin), and low-set ears. Muscle weakness in the lower face leads to significant feeding challenges, excessive drooling, and respiratory difficulties. Additional physical features of Crisponi syndrome include a scaly rash, limited elbow extension, overlapping fingers, tightly clenched hands, and foot and toe deformities. Affected infants are easily startled and often exhibit a grimace-like facial expression. By around six months old, these infants develop unexplained high fevers, increasing the risk of seizures and sudden death.

As individuals with Crisponi syndrome age, many of the initial health issues improve. Those who survive the newborn period transition to displaying features characteristic of cold-induced sweating syndrome in early childhood. Within the first decade, individuals begin experiencing episodes of excessive sweating (hyperhidrosis) and shivering affecting the face, torso, and arms. This profuse sweating is usually triggered by exposure to temperatures below approximately 65 to 70 degrees Fahrenheit, but it can also be provoked by anxiety or the consumption of sugary foods. Conversely, affected individuals tend not to sweat adequately in warmer environments, instead becoming flushed and overheated.

Adolescents with cold-induced sweating syndrome commonly develop abnormal spinal curvatures, specifically scoliosis (sideways curvature) and kyphosis (front-to-back curvature). When these occur together, it's often termed kyphoscoliosis. Despite the life-threatening fevers experienced in infancy, those who survive typically have a normal life expectancy.

Inheritance:

Cold-induced sweating syndrome follows an autosomal recessive inheritance pattern. This means that both copies of either the CRLF1 or CLCF1 gene within each cell must have mutations for the condition to develop. Individuals with an autosomal recessive condition inherit one mutated gene copy from each parent. The parents, who are carriers, usually do not exhibit any signs or symptoms of the condition themselves.