ORPHA:364574
Acrofacial dysostosis
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrofacial dysostosis | |
| fr | Dysostose acrofaciale | |
| de | Dysostose, akrofaziale | |
| es | Disostosis acrofacial | |
| it | Disostosi acrofacciale | |
| nl | Acrofaciale dysostose | |
| pt | Disostose acrofacial | |
| pl | Dyzostoza kończynowo-twarzowa | |
| cs | Akrofaciální dysostóza | |
| uk | Акрофаціальний дизостоз | |
| zh | 肩胛骨发育不良 | |
| tr | Akrofasiyal disostoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD25.2 | E | specific | validated |
| MONDO | 0018237 | E | validated | |
| MONDO | 18237 | E | validated | |
| UMLS | C1332140 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:364571Dysostosis with limb and face anomalies as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (15):
- ORPHA:949Acrocraniofacial dysostosis
- ORPHA:1786Acrofacial dysostosis, Catania type
- ORPHA:64542Acrofacial dysostosis, Kennedy-Teebi type
- ORPHA:1787Acrofacial dysostosis, Palagonia type
- ORPHA:1788Acrofacial dysostosis, Rodríguez type
- ORPHA:952Acrofacial dysostosis, Weyers type
- ORPHA:1784Acrofrontofacionasal dysostosis
- ORPHA:1827Acromelic frontonasal dysplasia
- ORPHA:1520Craniofrontonasal dysplasia
- ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome
- ORPHA:245Nager syndrome
- ORPHA:2439Patterson-Stevenson-Fontaine syndrome
- ORPHA:246Postaxial acrofacial dysostosis
- ORPHA:3102Richieri Costa-Pereira syndrome
- ORPHA:1131X-linked mandibulofacial dysostosis
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/364574
- This record as JSON: /data/d/364574.json