Odonto-tricho-ungual-digito-palmar syndrome
historical
Synonyms: Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type · OTUDP syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Odonto-tricho-ungual-digito-palmar syndrome | Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type · OTUDP syndrome |
| fr | Syndrome odonto-tricho-unguéo-digito-palmaire | Syndrome OTUDP · Syndrome odonto-tricho-unguéo-digito-palmaire de Mendoza-Valiente |
| de | Odonto-tricho-ungual-digito-palmares Syndrom | OTUDP-Syndrom · Odonto-tricho-ungual-digito-palmares Syndrom Typ Mendoza-Valiente |
| es | Síndrome odonto-trico-ónico-dígito-palmar | Síndrome OTUDP · Síndrome odonto-trico-ónico-dígito-palmar tipo Mendoza-Valiente |
| it | Sindrome odonto-trico-ungueale-digito-palmare | Sindrome OTUDP · Sindrome odonto-trico-ungueale-digito-palmare, tipo Mendoza-Valiente |
| nl | Odonto-tricho-unguaal-digito-palmair syndroom | OTUDP-syndroom · Odonto-tricho-unguaal-digito-palmair syndroom, Mendoza-Valiente-type |
| pt | Síndrome odonto-trico-ungueo-digito-palmar | Síndrome OTUDP · Síndrome odonto-trico-ungueo-digito-palmar tipo Mendoza-Valiente |
| pl | Zespół zębowo-włosowo-paznokciowo-palcowo-dłoniowy | Zespół OTUDP · Zespół zębowo-włosowo-paznokciowo-palcowo-dłoniowy, typ Mendoza i Valiente |
| cs | Odontotrichoungvodigitopalmární syndrom | OTUDP syndrom · Odontotrichoungvodigitopalmární syndrom, Mendozův-Valienteové typ · Odonto-tricho-ungvo-digito-palmární syndrom, Mendoza-Valienteové typ |
| uk | Одонто-трихо-унгвально-дигіто-пальмарний синдром | Синдром одонто-трихо-унгуально-дигіто-пальмарний, тип Мендоса-Вальєнте · Синдром OTUDP |
| zh | 牙-毛发-甲-手指-掌综合征 | 牙-毛发-甲-指（趾）-掌综合征，Mendoza-Valiente型 |
| tr | Odonto-triko-ungual-digito-palmar sendromu | OTUDP sendromu · Odonto-triko-ungual-dijito-palmar sendromu, Mendoza-Valiente tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601957 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0011171 | E | validated | |
| MeSH | C566598 | E | validated | |
| UMLS | C1865998 | 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 | 21 cases | Worldwide | Case(s) | Validated | 9217212[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9217212[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/69082
- This record as JSON: /data/d/69082.json