Cold-induced sweating syndrome 1

Cold-induced sweating syndrome 1, also known as Crisponi syndrome, is a rare and serious disorder. It is characterized by severe muscle contractions at birth, episodes of high body temperature (intermittent hyperthermia), distinctive facial differences, and bent fingers (camptodactyly). People with this condition may present with these signs soon after birth. The condition is recognized by its striking features and requires further understanding to fully capture its impact on affected individuals.

Common symptoms in people with this condition include severe muscle contractions at birth, episodes of high body temperature, distinctive facial abnormalities, and camptodactyly. These features are the main signs described in the available definition of the disorder.

This condition is linked to changes in the CRLF1 gene. It is considered a genetic disorder, meaning that the changes in this gene are a known cause of the syndrome. Detailed information on additional causes or risk factors is limited.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.