ORPHA:1660
Dermoodontodysplasia
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dermoodontodysplasia | |
| fr | Dysplasie dermo-dentaire | |
| de | Dermoodontodysplasie | |
| es | Dermo-odonto-displasia | |
| it | Dermo-odonto-displasia | |
| nl | Dermo-odontodysplasie | |
| pt | Dermato-odontodisplasia | |
| pl | Dermoodontodysplazja | |
| cs | Dermoodonto dysplázie | |
| uk | Дермоодонтодисплазія | |
| zh | 皮肤牙体发育不良 | |
| tr | Dermoodontodisplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125640 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007449 | E | validated | |
| MeSH | C565103 | E | validated | |
| UMLS | C1852144 | E | validated | |
| GARD | 1816 | 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 (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.
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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 | 11 cases | Worldwide | Case(s) | Validated | 6616948[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6616948[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000968 | Ectodermal dysplasia | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0000691 | Microdontia | |
| HP:0002231 | Sparse body hair | |
| HP:0002209 | Sparse scalp hair | |
| HP:0000963 | Thin skin | |
| HP:0100797 | Toenail dysplasia | |
| HP:0009804 | Tooth agenesis | |
| HP:0002552 | Trichodysplasia | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0000958 | Dry skin | |
| HP:0000966 | Hypohidrosis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000995 | Melanocytic nevus | |
| HP:0000508 | Ptosis | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1660
- This record as JSON: /data/d/1660.json