Trichoodontoonychial dysplasia
historical
Synonyms: Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichoodontoonychial dysplasia | Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region |
| fr | Dysplasie tricho-odonto-onychiale | Syndrome de dysplasie tricho-odonto-onychiale-anomalie des os fronto-pariétaux |
| de | Tricho-odonto-onychiale Dysplasie | |
| es | Displasia trico-odonto-oniquial | |
| it | Displasia trico-odonto-ungueale | |
| nl | Tricho-odonto-onychiale dysplasie | Tricho-odonto-onychiale dysplasie met botdeficiëntie in frontopariëtaal gebied |
| pt | Displasia trico-odonto-ungueal | |
| pl | Dysplazja włosowo-zębowo-paznokciowa | Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region |
| cs | Trichoodontoonychiální dysplázie | Trichoodontoonychiální dysplázie s kostním deficitem ve frontoparietální oblasti |
| uk | Трихоодонтооніхіальна дисплазія | Триходононіхіальна дисплазія з дефіцитом кісткової тканини в лобно-тімяній ділянці |
| zh | 毛发牙齿甲床发育不良 | 毛发牙齿甲床发育不良伴额顶区骨骼缺陷 |
| tr | Trikoodontoonikiyal displazi | Frontopariyetal bölgede kemik eksikliği ile seyreden trikoodontoonikyal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275450 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010153 | E | validated | |
| MeSH | C564760 | E | validated | |
| UMLS | C3502453 | E | validated | |
| GARD | 5267 | 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 | 4 cases | Worldwide | Case(s) | Validated | 6859125[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6859125[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/3355
- This record as JSON: /data/d/3355.json