Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Synonyms: Stoelinga-de Koomen-Davis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Childhood
- Status
- active
Noneruption of teeth - maxillary hypoplasia - <i>genu valgum</i> is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe <i>genu valgum</i> and deformed ears.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome | Stoelinga-de Koomen-Davis syndrome |
| fr | Syndrome de pseudoanodontie-hypoplasie maxillaire-genu valgum | Syndrome de Stoelinga-de Koomen-Davis |
| de | Fehlender Zahndurchbruch-Maxillahypoplasie-Genu valgum-Syndrom | Stoelinga-de-Koomen-Davis-Syndrom |
| es | Síndrome de fracaso de la erupción dentaria-hipoplasia maxilar-genu valgum | Síndrome de Stoelinga-de Koomen-Davis |
| it | Pseudoanodontia - ipoplasia mascellare - ginocchio valgo | Sindrome di Stoelinga-de Koomen-Davis |
| nl | Niet doorkomen van tanden - hypoplasie van maxilla - genu valgum-syndroom | Syndroom van Stoelinga-de Koomen-Davis |
| pt | Síndrome de dentes inclusos-hipoplasia maxilar-joelhos valgos | Síndrome Stoelinga-de Koomen-Davis |
| pl | Brak wyrzynania się zębów - hipoplazja szczęki - kolano koślawe | Zespół Stoelinga, de Koomena i Davisa |
| cs | Syndrom zahrnující neprořezání zubů, hypoplázii horní čelisti a genu valgum | Stoelingův-de Koomenův-Davisův syndrom · Stoelinga-de Koomen-Davisův syndrom |
| uk | Синдром відсутності прорізування зубів-гіпоплазії щелепно-лицевої ділянки-genu valgum | Синдром Столінга-де-Кумена-Девіса |
| zh | 无牙齿萌出-上颌发育不良-膝外翻综合征 | Stoelinga-de Koomen-Davis综合征 |
| tr | Dişlerin çıkmaması- maksiller hipoplazi-genu valgum sendromu | Stoelinga-de Koomen-Davis sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 273050 | E | validated | |
| ICD-10 | K07.0 | NTBT | attributed | validated |
| MONDO | 0010104 | E | validated | |
| MeSH | C537496 | E | validated | |
| UMLS | C2931509 | 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: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 | 975598[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0006329 | Alveolar process hypoplasia | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002857 | Genu valgum | |
| HP:0000668 | Hypodontia | |
| HP:0000272 | Malar flattening | |
| HP:0005439 | Maxillozygomatic hypoplasia | |
| Frequent (79-30%) | ||
| HP:0000358 | Posteriorly rotated ears | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2972
- This record as JSON: /data/d/2972.json