Odontomicronychial dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Odontomicronychial dysplasia | |
| fr | Dysplasie ectodermique odonto-micronychiale | |
| de | Dysplasie, ektodermale odonto-mikronychiale | |
| es | Displasia odontomicroniquial | |
| it | Displasia odonto-micro-onichiale | |
| nl | Odontomicronychiale dysplasie | |
| pt | Displasia odonto-microniquial | |
| pl | Dysplazja zębowa ze skróceniem płytki paznokci | |
| cs | Odontomikronychiální dysplázie | |
| uk | Одонтомікроніхіальна дисплазія | |
| zh | 牙-小甲发育不良 | |
| tr | Odontomicronychial displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601319 | E | validated | |
| ICD-10 | Q84.8 | NTBT | attributed | validated |
| MONDO | 0011034 | E | validated | |
| MeSH | C537741 | E | validated | |
| UMLS | C1832473 | E | validated | |
| GARD | 4053 | 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 (2):
- ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin 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 | 5 cases | Worldwide | Case(s) | Validated | 8728698[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8728698[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
9 annotations · validated 2023-04-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000670 | Carious teeth | |
| HP:0000968 | Ectodermal dysplasia | |
| HP:0006337 | Premature eruption of permanent teeth | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0001799 | Short nail | |
| HP:0008383 | Slow-growing nails | |
| HP:0001816 | Thin nail | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 8728698[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1811
- This record as JSON: /data/d/1811.json