Hidrotic ectodermal dysplasia, Christianson-Fourie type
Synonyms: Christianson-Fourie syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hidrotic ectodermal dysplasia, Christianson-Fourie type | Christianson-Fourie syndrome |
| fr | Dysplasie ectodermique hidrotique type Christianson-Fourie | Syndrome de Christianson-Fourie |
| de | Dysplasie, ektodermale hidrotische, Typ Christianson-Fourie | Christianson-Fourie-Syndrom |
| es | Displasia ectodérmica hidrótica tipo Christianson-Fourie | Síndrome de Christianson-Fourie |
| it | Displasia ectodermica idrotica, tipo Christianson-Fourie | Sindrome di Christianson-Fourie |
| nl | Hidrotische ectodermale dysplasie, Christianson-Fourie-type | Syndroom van Christianson-Fourie |
| pt | Displasia ectodérmica hidrótica, tipo Christianson-Fourie | Síndrome Christianson-Fourie |
| pl | Hydrotyczna dysplazja ektodermalna typu Christianson i Fourie | Zespół Christianson i Fourie |
| cs | Hidrotická ektodermální dysplázie, typ Christiansona-Fourieho | Christiansonův-Fourieho syndrom · Hidrotická ektodermální dysplázie, typ Christianson-Fourieho · Christianson-Fourieho syndrom |
| uk | Гідротична ектодермальна дисплазія, тип Крістіансона-Фурє | Синдром Крістіансона-Фурє |
| zh | 有汗型外胚层发育不良，Christianson-Fourie型 | Christianson-Fourie综合征 |
| tr | Hidrotik ektodermal displazi, Christianson-Fourie tipi | Christianson-Fourie sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601375 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0011063 | E | validated | |
| MeSH | C536180 | E | validated | |
| UMLS | C1832411 | E | validated | |
| GARD | 2682 | 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 (1):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin 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 | 6 cases | Worldwide | Case(s) | Validated | 8826433[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8826433[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0001595 | Abnormality of the hair | |
| HP:0002223 | Absent eyebrow | |
| HP:0008404 | Nail dystrophy | |
| HP:0008401 | Onychogryposis of toenails | |
| HP:0000653 | Sparse eyelashes | |
| HP:0002209 | Sparse scalp hair | |
| Frequent (79-30%) | ||
| HP:0002215 | Sparse axillary hair | |
| HP:0002225 | Sparse pubic hair | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1808
- This record as JSON: /data/d/1808.json