Cold-induced sweating syndrome 1
Findings
No curated finding names Cold-induced sweating syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
Definition from the Mondo Disease Ontology (MONDO:0010091), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- Hypertonia
Show the remaining 10
- Respiratory insufficiencyHPOHP:0002093
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Sudden cardiac deathHPOHP:0001645
- Very frequent (80% to 99% of cases)
- Wide noseHPOHP:0000445
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CRLF1HGNC:2364
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- CLCF1HGNC:17412
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Cold-induced sweating syndrome 1
- Also called
- cold-induced sweating syndrome type 1Crisponi syndrome