Radial deficiency-tibial hypoplasia syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- historical
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Radial deficiency-tibial hypoplasia syndrome | |
| fr | Syndrome d'aplasie radiale-aplasie tibiale | |
| de | Radiusaplasie-Tibiahypoplasie-Syndrom | |
| es | Síndrome de aplasia radial-aplasia tibial | |
| it | Iposviluppo radiale - ipoplasia tibiale | |
| nl | Radiale deficiëntie - tibiale hypoplasie-syndroom | |
| pt | Síndrome de anomalia radial-hipoplasia tibial | |
| pl | Skrócenie kości promieniowej - niedorozwój kości strzałkowej | |
| cs | Syndrom zahrnující deficit radia a tibiální hypoplázii | |
| uk | Синдром променевої недостатності-гіпоплазії великогомілкової кістки | |
| zh | 桡骨缺陷-胫骨发育不全综合征 | |
| tr | Radyal yetersizlik-tibial hipoplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| MONDO | 0015232 | E | validated | |
| UMLS | C5190823 | 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:294957Dysostosis with combined reduction defects of upper and lower limbs
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8723109[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1121
- This record as JSON: /data/d/1121.json