Isolated acheiropodia
Synonyms: Isolated acheiropody
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated acheiropodia | Isolated acheiropody |
| fr | Acheiropodie isolée | |
| de | Acheiropodie, isolierte | |
| es | Aqueiropodia aislada | |
| it | Acheiropodia isolata | |
| nl | Geïsoleerde acheiropodie | Geïsoleerde acheiropodia |
| pt | Aqueiropodia isolada | Aqueiropodismo isolado |
| pl | Acheiropodia | Izolowana acheiropodia |
| cs | Acheiropodie | = en |
| uk | Ізольовані ахейроподії | Ізольована ахейроподія |
| zh | 无手足畸形 | 无手足畸形 |
| tr | Akeiropodi | Akeiropodi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200500 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LB9B | NTBT | index | validated |
| MONDO | 0008700 | E | validated | |
| MeSH | C536014 | E | validated | |
| UMLS | C5924998 | E | validated | |
| GARD | 376 | 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 (1):
- ORPHA:498461Non-syndromic terminal transverse limb defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMBR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13243 | ENSG00000105983 | 605522 | 7q36.3 | limb development membrane protein 1 | 11090342[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Brazil | Value and class | Validated | 1155460[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.03 / 100 000 | Brazil | Value and class | Validated | 1155460[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0004050 | Absent hand | |
| HP:0003974 | Absent radius | |
| HP:0003982 | Absent ulna | |
| HP:0002990 | Fibular aplasia | |
| HP:0005792 | Short humerus | |
| HP:0009813 | Upper limb phocomelia | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/931
- This record as JSON: /data/d/931.json