Cronkhite-Canada syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CRONKHITE-CANADA SYNDROME
Gastrointestinal polyposis - ectodermal changes
Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes
Number of Symptoms 63
OrphanetNr: 2930
OMIM Id: 175500
ICD-10:
UMLs: C0282207
MeSH:
MedDRA: 10062907
Snomed: 76304001

Prevalence, inheritance and age of onset:

Prevalence: 500 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic intestinal polyposis
 -Rare genetic disease
Intestinal polyposis syndrome
 -Rare gastroenterologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
2
 (HPO:0002039) Anorexia Frequent [Orphanet] 62 / 7739
3
 (HPO:0002014) Diarrhea 225 / 7739
4
 (HPO:0002013) Vomiting 191 / 7739
5
 (HPO:0002239) Gastrointestinal hemorrhage Frequent [Orphanet] 97 / 7739
6
 (HPO:0002573) Hematochezia 18 / 7739
7
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
8
 (HPO:0001907) Thromboembolism 15 / 7739
9
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
10
 (HPO:0002901) Hypocalcemia 56 / 7739
11
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
12
 (HPO:0003075) Hypoproteinemia Occasional [Orphanet] 27 / 7739
13
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
14
 (HPO:0001004) Lymphedema Frequent [Orphanet] 62 / 7739
15
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
16
 (HPO:0002960) Autoimmunity Frequent [Orphanet] 78 / 7739
17
 (HPO:0002917) Hypomagnesemia 19 / 7739
18
 (HPO:0002900) Hypokalemia 45 / 7739
19
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
20
 (HPO:0004408) Abnormality of the sense of smell Occasional [Orphanet] 28 / 7739
21
 (HPO:0000763) Sensory neuropathy Occasional [Orphanet] 78 / 7739
22
 (HPO:0003401) Paresthesia 42 / 7739
23
 (HPO:0009830) Peripheral neuropathy 206 / 7739
24
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
25
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
26
 (HPO:0100759) Clubbing of fingers 40 / 7739
27
 (HPO:0001182) Tapered finger Occasional [Orphanet] 93 / 7739
28
 (HPO:0001217) Clubbing 39 / 7739
29
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
30
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
31
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
32
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
33
 (HPO:0002225) Sparse pubic hair Frequent [Orphanet] 76 / 7739
34
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
35
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
36
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
37
 (HPO:0001820) Leukonychia Very frequent [Orphanet] 18 / 7739
38
 (HPO:0002164) Nail dysplasia 82 / 7739
39
 (HPO:0008404) Nail dystrophy 89 / 7739
40
 (HPO:0100273) Neoplasm of the colon Very frequent [Orphanet] 18 / 7739
41
 (HPO:0200008) Intestinal polyposis Very frequent [Orphanet] 23 / 7739
42
 (HPO:0002243) Protein-losing enteropathy 8 / 7739
43
 (HPO:0004390) Hamartomatous polyposis 9 / 7739
44
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
45
 (HPO:0006753) Neoplasm of the stomach Very frequent [Orphanet] 13 / 7739
46
 (HPO:0002672) Gastrointestinal carcinoma 3 / 7739
47
 (HPO:0100833) Neoplasm of the small intestine Frequent [Orphanet] 5 / 7739
48
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
49
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
50
 (HPO:0000221) Furrowed tongue Occasional [Orphanet] 24 / 7739
51
 (HPO:0000206) Glossitis 9 / 7739
52
 (HPO:0100649) Neoplasm of the oral cavity Very frequent [Orphanet] 20 / 7739
53
 (HPO:0000217) Xerostomia 35 / 7739
54
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
55
 (HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] 75 / 7739
56
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
57
 (HPO:0011276) Vascular skin abnormality Frequent [Orphanet] 24 / 7739
58
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
59
 (HPO:0100820) Glomerulopathy Occasional [Orphanet] 46 / 7739
60
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
61
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
62
 (HPO:0003745) Sporadic 131 / 7739
63
 (OMIM) Diminution of sense of taste 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It is associated with high morbidity (summary by Sweetser et al., 2012).
Clinical Description OMIM Cronkhite and Canada (1955) described 2 unrelated patients with a syndrome of gastrointestinal polyposis, skin hyperpigmentation, alopecia, onychodystrophy, and diarrhea. Another patient with similar features was reported by Jarnum and Jensen (1966). Manousos and Webster (1966) reported the ...