Ectodermal dysplasia with natal teeth, Turnpenny type
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Neonatal
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia with natal teeth, Turnpenny type | |
| fr | Syndrome de dysplasie ectodermique-dents de naissance, type Turnpenny | |
| de | Dysplasie, ektodermale - natale Zähne, Typ Turnpenny | |
| es | Displasia ectodérmica con dientes natales tipo Turnpenny | |
| it | Displasia ectodermica con denti neonatali tipo Turnpenny | |
| nl | Ectodermale dysplasie met natale tanden, Turnpenny-type | |
| pt | Displasia ectodérmica com dentes neonatais tipo Turnpenny | |
| pl | Dysplazja ektodermalna z zębami noworodkowymi typu Turnpenny | |
| cs | Turnpennyho typ ektodermální dysplázie s natálními zuby | |
| uk | Ектодермальна дисплазія з натальними зубами, тип Тернпенні | |
| zh | 外胚层发育不良症伴发胎生牙，Turnpenny型 | |
| tr | Doğum dişleri olan ektodermal displazi, Turnpenny tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601345 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0011041 | E | validated | |
| MeSH | C563347 | E | validated | |
| UMLS | C1832444 | E | validated | |
| GARD | 10526 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8574423[PMID] |
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 8574423[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/69083
- This record as JSON: /data/d/69083.json