Postaxial polydactyly-dental and vertebral anomalies syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Postaxial polydactyly-dental and vertebral anomalies syndrome | |
| fr | Syndrome de polydactylie postaxiale-anomalies dentaires et vertébrales | |
| de | Polydaktylie, postaxiale - dentale und vertebrale Anomalien | |
| es | Síndrome de polidactilia postaxial-anomalías dentales y vertebrales | |
| it | Sindrome da polidattilia postassiale ed anomalie dentali e vertebrali | |
| nl | Postaxiale polydactylie - dentale en vertebrale anomalieën-syndroom | |
| pt | Síndrome de polidactilia pós-axial-anomalias dentárias e das vértebras | |
| pl | Polidaktylia pozaosiowa - anomalie zębów i kręgów | |
| cs | Syndrom zahrnující postaxiální polydaktylii a anomálie zubů a obratlů | |
| uk | Синдром постаксіальної полідактилії - зубощелепні та хребетні аномалії | |
| zh | 轴后性多指-牙齿脊柱畸形综合征 | |
| tr | Postaksiyal polidaktili-dental ve vertebral anomaliler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263540 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0009895 | E | validated | |
| UMLS | C4750750 | 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 | 3 cases | Worldwide | Case(s) | Validated | 187745[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_187745[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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0001156 | Brachydactyly | |
| HP:0002937 | Hemivertebrae | |
| HP:0008479 | Hypoplastic vertebral bodies | |
| HP:0001572 | Macrodontia | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0002948 | Vertebral fusion | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000286 | Epicanthus | |
| HP:0001347 | Hyperreflexia | |
| HP:0000668 | Hypodontia | |
| HP:0002808 | Kyphosis | |
| HP:0002162 | Low posterior hairline | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0000175 | Cleft palate | |
| HP:0005988 | Congenital muscular torticollis | |
| HP:0003042 | Elbow dislocation | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0002999 | Patellar dislocation | |
| HP:0001357 | Plagiocephaly | |
| HP:0100672 | Vaginal hernia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2916
- This record as JSON: /data/d/2916.json