Postaxial tetramelic oligodactyly
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Postaxial tetramelic oligodactyly | |
| fr | Oligodactylie post-axiale tétramélique | |
| de | Oligodaktylie, tetramelische postaxiale | |
| es | Oligodactilia postaxial tetramélica | |
| it | Oligodattilia postassiale - tetramelica | |
| nl | Postaxiale tetramelische oligodactylie | |
| pt | Oligodactilia pós-axial tetramélica | |
| pl | Zaosiowa oligodaktylia czterokończynowa | |
| cs | Postaxiální tetramelická oligodaktylie | |
| uk | Постаксіальна тетрамелічна олігодактилія | |
| zh | 轴后性四肢少指畸形 | |
| tr | Eksenel tetramelik oligodaktili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176240 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| MONDO | 0008298 | E | validated | |
| MeSH | C566767 | E | validated | |
| UMLS | C1867924 | E | validated | |
| GARD | 4065 | 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:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone 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 | 8100684[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8100684[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
4 annotations · validated 2017-09-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0100257 | Ectrodactyly | |
| HP:0012165 | Oligodactyly | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2730
- This record as JSON: /data/d/2730.json