Curly hair-acral keratoderma-caries syndrome
Synonyms: CHAC syndrome · CHACS
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Childhood
- Status
- active
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Curly hair-acral keratoderma-caries syndrome | CHAC syndrome · CHACS |
| fr | Syndrome des cheveux frisés-kératodermie acrale-caries | CHACS · Syndrome CHAC |
| de | Kraushaar-akrales Keratoderm-Karies-Syndrom | |
| es | Síndrome de cabello rizado-queratodermia acral-caries | CHACS · Síndrome CHAC |
| it | Sindrome capelli ricci-cheratoderma acrale-carie | CHACS · Sindrome CHAC |
| nl | Gekruld haar-acrale keratodermie-cariës-syndroom | CHAC-syndroom · CHACS |
| pt | Síndrome de cabelo encaracolado-queratodermia acral-cáries dentárias | |
| pl | Zespół krecone włosy-keratodermia kończynowa-próchnica | CHACS · Zespół CHAC |
| cs | Syndrom zahrnující kudrnaté vlasy, akrální keratodermii a zubní kaz | CHAC syndrom · CHACS |
| uk | Синдром кучерявого волосся-акральної кератодермії-карієсу | Синдром CHAC · CHACS |
| zh | 卷发-肢端皮肤角化-龋齿综合征 | 卷发-肢端皮肤角化-龋齿综合征 |
| tr | Kıvırcık saç-akral keratoderma-karie sendromu | CHACS · CHAC sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607656 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0011883 | E | validated | |
| MeSH | C536220 | E | validated | |
| UMLS | C1843291 | E | validated | |
| GARD | 10163 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 11453928[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11453928[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/307766
- This record as JSON: /data/d/307766.json