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Disease Profile
Cold-induced sweating syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
G90.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death; CISS; Crisponi syndrome;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 157820
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Hypertonia | 0001276 | |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Large face |
Big face
|
0100729 |
Long philtrum | 0000343 | |
Malignant hyperthermia | 0002047 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
0002650 | ||
Sudden cardiac death |
Premature sudden cardiac death
|
0001645 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
30%-79% of people have these symptoms | ||
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
5%-29% of people have these symptoms | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Adducted thumb |
Inward turned thumb
|
0001181 |
0000007 | ||
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Dyspnea |
Trouble breathing
|
0002094 |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Facial palsy |
Bell's palsy
|
0010628 |
Feeding difficulties in infancy | 0008872 | |
Keratitis |
Corneal inflammation
|
0000491 |
Kyphoscoliosis | 0002751 | |
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Nasal speech |
Nasal voice
|
0001611 |
Opisthotonus | 0002179 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Radial deviation of finger | 0009466 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Short neck |
Decreased length of neck
|
0000470 |
Short palm | 0004279 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
Trismus |
Lockjaw
|
0000211 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Social Networking Websites
- Visit the following Facebook groups related to Cold-induced sweating syndrome:
Hyperhidrosis (for cold weather sufferers)
Cold-Induced Sveating Syndrome (CISS)
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Cold-induced sweating syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Cold-induced sweating syndrome
Crisponi syndrome - PubMed is a searchable database of medical literature and lists journal articles that discuss Cold-induced sweating syndrome. Click on the link to view a sample search on this topic.