Overview
Cold-induced sweating syndrome-hyperthermia spectrum (also known as CISS or Crisponi syndrome spectrum) is a very rare genetic condition that affects the body's ability to regulate temperature and sweating. People with this condition experience unusual sweating that is triggered by cold temperatures rather than heat, which is the opposite of what normally happens. In warm environments, affected individuals may have difficulty sweating properly, which can lead to dangerous overheating (hyperthermia), especially in infancy and early childhood. This spectrum includes conditions previously described separately: Crisponi syndrome (the more severe form seen in newborns) and cold-induced sweating syndrome types 1 and 2. Babies born with the severe form may have feeding difficulties, muscle contractions of the face and jaw triggered by touch or handling, breathing problems, and episodes of dangerously high body temperature. As children grow older, the life-threatening overheating episodes may become less frequent, but abnormal cold-induced sweating typically persists. Other features can include a curved spine (scoliosis), distinctive facial features, and skeletal abnormalities. There is currently no cure for this condition. Treatment focuses on managing symptoms, preventing overheating, and addressing complications such as feeding difficulties and skeletal problems. Early recognition and careful temperature management are critical, especially during infancy when the risk of fatal hyperthermia is highest.
Key symptoms:
Sweating triggered by cold temperatures instead of heatInability to sweat properly in warm environmentsDangerous episodes of high body temperature (hyperthermia)Feeding difficulties in infancyInvoluntary muscle contractions of the face and jawBreathing difficulties in newbornsCurved spine (scoliosis)Distinctive facial featuresDifficulty controlling body temperatureSkeletal abnormalitiesMuscle stiffness or spasms triggered by touchPoor weight gain in infancySkin rashes or irritation from abnormal sweating
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Cold-induced sweating syndrome-hyperthermia spectrum.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Cold-induced sweating syndrome-hyperthermia spectrum.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene mutation does my child have, and does it affect the expected severity of the condition?,What is the emergency plan if my child develops dangerously high body temperature?,How often should my child's spine and skeletal development be monitored?,Are there any clinical trials or research studies we could participate in?,What precautions should we take during hot weather, travel, or physical activity?,Should other family members be tested to see if they are carriers?,What support services are available for feeding difficulties and developmental needs?
Common questions about Cold-induced sweating syndrome-hyperthermia spectrum
What is Cold-induced sweating syndrome-hyperthermia spectrum?
Cold-induced sweating syndrome-hyperthermia spectrum (also known as CISS or Crisponi syndrome spectrum) is a very rare genetic condition that affects the body's ability to regulate temperature and sweating. People with this condition experience unusual sweating that is triggered by cold temperatures rather than heat, which is the opposite of what normally happens. In warm environments, affected individuals may have difficulty sweating properly, which can lead to dangerous overheating (hyperthermia), especially in infancy and early childhood. This spectrum includes conditions previously descri
How is Cold-induced sweating syndrome-hyperthermia spectrum inherited?
Cold-induced sweating syndrome-hyperthermia spectrum follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cold-induced sweating syndrome-hyperthermia spectrum typically begin?
Typical onset of Cold-induced sweating syndrome-hyperthermia spectrum is neonatal. Age of onset can vary across affected individuals.