Odonto-onycho dysplasia-alopecia syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Odonto-onycho dysplasia-alopecia syndrome | |
| fr | Syndrome de dysplasie odonto-onychiale-alopécie | |
| de | Odonto-Onycho-Dysplasie mit Alopezie | |
| es | Síndrome odonto-ónico displasia-alopecia | |
| it | Odonto-onico-displasia con alopecia | |
| nl | Odonto-onycho dysplasie - alopecie-syndroom | |
| pt | Síndrome de alopecia-displasia odonto-ungeal | |
| pl | Dyspazja zębowo-paznokciowa z łysieniem | |
| cs | Syndrom zahrnující odontoonycho dysplázii a alopecii | |
| uk | Синдром одонтооніходисплазії-алопеції | |
| zh | 牙齿-指甲发育不良-脱发综合征 | |
| tr | Odonto-oniko displazi-alopesi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0017134 | E | validated | |
| UMLS | C4706599 | E | validated | |
| GARD | 4051 | 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 |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2982262[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2982262[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001596 | Alopecia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000691 | Microdontia | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0002231 | Sparse body hair | |
| HP:0045075 | Sparse eyebrow | |
| HP:0008070 | Sparse hair | |
| HP:0009804 | Tooth agenesis | |
| HP:0000692 | Tooth malposition | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2722
- This record as JSON: /data/d/2722.json