ORPHA:2228
Hypodontia-dysplasia of nails syndrome
Synonyms: Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome · Witkop syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypodontia-dysplasia of nails syndrome | Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome · Witkop syndrome |
| fr | Syndrome d'hypodontie-dysplasie unguéale | Syndrome de Witkop · Syndrome dents et ongles |
| de | Hypodontie-Nageldysplasie-Syndrom | Syndrom der Hypodontie mit Nageldysgenesie · Witkop-Syndrom · Zahn-Nagel-Syndrom |
| es | Síndrome de hipodoncia-displasia ungueal | Síndrome de Witkop · Síndrome de dientes y uñas |
| it | Ipodonzia - displasia ungueale | Sindrome denti-unghie · Sindrome di Witkop |
| nl | Hypodontie - nageldysplasie-syndroom | Hypodontie - nageldysgenesie-syndroom · Syndroom van Witkop · Tand en nagel-syndroom |
| pt | Síndrome de hipodontia-displasia das unhas | Síndrome Witkop · Síndrome de hipodontia-disgenesia das unhas · Síndrome dente-unha |
| pl | Hipodoncja - dysplazja paznokci | Hipodoncja - dysgenezja paznokci · Zespół Witkopa · Zespół zęba i paznokcia |
| cs | Syndrom zahrnující hypodoncii a dysplázii nehtů | Syndrom zub a nehet · Syndrom zahrnující hypodoncii a dysgenezi nehtů · Witkopův syndrom |
| uk | Синдром гіподонтії - дисплазії нігтів | Синдром гіподонтії та дисгенезії нігтів · Зубний і нігтьовий синдром · Синдром Віткопа |
| zh | 牙发育不全-指甲发育不良综合征 | 牙发育不全-指甲发育不良综合征 |
| tr | Hipodonti-tırnak sendromu displazisi | Witkop sendromu · Diş ve tırnak sendromu · Hipodonti-tırnak disgenezi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 189500 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008582 | E | validated | |
| MeSH | C536736 | E | validated | |
| UMLS | C0406735 | E | validated | |
| GARD | 5587 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MSX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7391 | ENSG00000163132 | 142983 | 4p16.2 | msh homeobox 1 | 11369996[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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:0006482 | Abnormal dental morphology | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0006349 | Agenesis of permanent teeth | |
| HP:0000698 | Conical tooth | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0001808 | Fragile nails | |
| HP:0000668 | Hypodontia | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0008402 | Ridged fingernail | |
| HP:0012746 | Thin toenail | |
| Frequent (79-30%) | ||
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002213 | Fine hair | |
| Occasional (29-5%) | ||
| HP:0000147 | Polycystic ovaries | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2228
- This record as JSON: /data/d/2228.json