ORPHA:2930
Cronkhite-Canada syndrome
Synonyms: Gastrointestinal polyposis-ectodermal changes syndrome · Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cronkhite-Canada syndrome | Gastrointestinal polyposis-ectodermal changes syndrome · Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome |
| fr | Syndrome de Cronkhite-Canada | Syndrome de polypose gastro-intestinale-anomalies ectodermiques · Syndrome de polypose gastro-intestinale-hyperpigmentation-alopécie-onychodystrophie |
| de | Cronkhite-Canada-Syndrom | Gastrointestinale Polypose - ektodermale Veränderungen · Polyposis - Hyperpigmentierung - Alopezie - Anomalien der Fingernägel |
| es | Síndrome de Cronkhite-Canada | Poliposis gastrointestinal-cambios ectodérmicos · Poliposis gastrointestinal-pigmentación cutánea-alopecia-cambios en las uñas · Poliposis gastrointestinal-pigmentación de la piel-alopecia-cambios en las uñas · Poliposis-pigmentación de la piel-alopecia-cambios en las uñas de las manos |
| it | Sindrome di Cronkhite-Canada | Poliposi gastrointestinale - anomalie ectodermiche · Poliposi gastrointestinale - pigmentazione cutanea - alopecia - anomalie delle unghie |
| nl | Syndroom van Cronkhite-Canada | Gastro-intestinale polyposis - ectodermale veranderingen-syndroom · Gastro-intestinale polyposis - huidpigmentatie - alopecie - veranderingen van vingernagels-syndroom |
| pt | Síndrome Cronkhite-Canada | Síndrome de polipose gastrointestinal-alterações ectodérmicas · Síndrome de polipose gastrointestinal-hiperpigmentação cutânea-alopecia-anomalias ungueais |
| pl | Zespół Cronkhite i Canada | Polipy żołądka i jelit - pigmentacja skóry - łysienie - zmiany paznokci u rąk · Polipy żołądka i jelit - zmiany naskórka |
| cs | Cronkhiteův-Canadové syndrom | Syndrom zahrnující gastrointersticiální polypózu a ektodermální změny · Syndrom zahrnující gastrointestinální polypózu, kožní pigmentaci, alopecii a změny nehtů · Cronkhite-Canadové syndrom |
| uk | Синдром Кронхіта-Канади | Синдром поліпозно-ектодермальних змін шлунково-кишкового тракту · Синдром шлунково-кишкового поліпозу - пігментації шкіри - алопеції - зміни нігтів |
| zh | Cronkhite-Canada综合征 | 胃肠道多发息肉-皮肤色素沉着-脱发-指甲改变综合征 |
| tr | Cronkhite-Canada sendromu | Gastrointestinal polipoz-ektodermal değişiklikler sendromu · Gastrointestinal polipoz-deri pigmentasyonu-alopesi-el tırnağı değişiklikleri sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175500 | E | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | LD27.01 | E | specific | validated |
| MONDO | 0008283 | E | validated | |
| UMLS | C0282207 | E | validated | |
| GARD | 4427 | E | validated | |
| MedDRA | 10062907 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare skin diseases - ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | 25004941[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_25004941[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0001596 | Alopecia | |
| HP:0002014 | Diarrhea | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0004390 | Hamartomatous polyposis | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0200008 | Intestinal polyposis | |
| HP:0002024 | Malabsorption | |
| HP:0002232 | Patchy alopecia | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002597 | Abnormality of the vasculature | |
| HP:0001903 | Anemia | |
| HP:0002039 | Anorexia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0004326 | Cachexia | |
| HP:0012378 | Fatigue | |
| HP:0001004 | Lymphedema | |
| HP:0002231 | Sparse body hair | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0003003 | Colon cancer | |
| HP:0000224 | Decreased taste sensation | |
| HP:0000221 | Furrowed tongue | |
| HP:0002672 | Gastrointestinal carcinoma | |
| HP:0002240 | Hepatomegaly | |
| HP:0000256 | Macrocephaly | |
| HP:0002664 | Neoplasm | |
| HP:0001250 | Seizure | |
| HP:0001744 | Splenomegaly | |
| HP:0012126 | Stomach cancer | |
| HP:0001182 | Tapered finger | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2930
- This record as JSON: /data/d/2930.json