Living with Cold-induced sweating syndrome 1
A genetic condition from birth with muscle tightness, temperature control problems, facial differences and bent fingers.
Understanding Cold-induced sweating syndrome 1
It is marked by muscle contractions at birth, fevers that come and go, differences in the face and bent fingers (camptodactyly). Babies can have feeding and breathing difficulties. Sweating problems, either too much or too little, are also listed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Feeding difficulties
- Trouble breathing (respiratory insufficiency)
- Joints that cannot fully straighten
- Permanently bent fingers (camptodactyly)
- Heavy or reduced sweating
- Curved spine (scoliosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CRLF1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Cold-induced sweating syndrome 1 is caused by changes in the CRLF1 gene. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: ciss1; cold-induced sweating syndrome type 1; crisponi/cold-induced sweating syndrome 1; crlf1-related cold-induced sweating syndrome including crisponi syndrome; muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Cold-induced sweating syndrome 1.
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