Rare Neurology News

Disease Profile

Cronkhite-Canada disease

Prevalence
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.

Unknown

Age of onset

Elderly

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ICD-10

D12.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Polyposis skin pigmentation alopecia fingernail changes

Categories

Congenital and Genetic Diseases; Digestive Diseases; Rare Cancers;

Summary

Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripheral edema). The cause of the condition is not known. Treatment aims to control symptoms and provide adequate nutrition.[1][2][3]

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
Diarrhea
Watery stool
0002014
Dystrophic fingernails
Poor fingernail formation
0008391
Dystrophic toenail
Poor toenail formation
0001810
Generalized hyperpigmentation
0007440
Hamartomatous polyposis
0004390
Hypoplastic toenails
Underdeveloped toenails
0001800
Intestinal polyposis
0200008
Malabsorption
Intestinal malabsorption
0002024
Patchy alopecia
Patchy baldness
0002232
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Anemia
Low number of red blood cells or hemoglobin
0001903
Anorexia
0002039
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow

[ more ]

0100840
Cachexia
Wasting syndrome
0004326
Fatigue
Tired
Tiredness

[ more ]

0012378
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Sparse body hair
0002231
5%-29% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Colon cancer
0003003
Furrowed tongue
Grooved tongue
0000221
Gastrointestinal carcinoma
0002672
Hepatomegaly
Enlarged liver
0002240
Hypogeusia
Decreased taste
Decreased taste sensation

[ more ]

0000224
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Seizure
0001250
Splenomegaly
Increased spleen size
0001744
Stomach cancer
0012126
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Percent of people who have these symptoms is not available through HPO
Alopecia
Hair loss
0001596
Clubbing
Clubbing of fingers and toes
0001217
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing

[ more ]

0100759
Glossitis
Inflammation of the tongue
Smooth swollen tongue

[ more ]

0000206
Hematochezia
Rectal bleeding
0002573
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypocalcemia
Low blood calcium levels
0002901
Hypokalemia
Low blood potassium levels
0002900
Hypomagnesemia
Low blood magnesium levels
0002917
Muscle weakness
Muscular weakness
0001324
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Protein-losing enteropathy
0002243
Sporadic
No previous family history
0003745
Thromboembolism
0001907
Vomiting
Throwing up
0002013
Xerostomia
Dry mouth
Dry mouth syndrome
Reduced salivation

[ more ]

0000217

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.

Organizations Supporting this Disease

    Organizations Providing General Support

      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

      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Cronkhite-Canada disease. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

            References

            1. Kao KT, Patel JK, Pampati V. Gastroenterol Res Pract. Epub 2009 Aug 25; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2732131/?tool=pubmed. Accessed 5/31/2015.
            2. Serwin AB. Cronkhite-Canada syndrome. eMedicine. October 23, 2014; https://emedicine.medscape.com/article/1096789-overview. Accessed 5/31/2015.
            3. Cronkhite-Canada Syndrome. National Organization for Rare Disorders (NORD). 2005; https://rarediseases.org/rare-diseases/cronkhite-canada-syndrome/. Accessed 5/31/2015.