Isolated absence of both forearm and hand
Synonyms: Isolated congenital radio-ulnar terminal transverse meromelia
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated absence of both forearm and hand | Isolated congenital radio-ulnar terminal transverse meromelia |
| fr | Absence isolée de l'avant-bras et de la main | Méromélie terminale transverse radio-cubitale isolée · Méromélie terminale transverse radio-ulnaire isolée |
| de | Isoliertes angeborenes Fehlen von Unterarm und Hand | Isolierte kongenitale radioulnare terminaltransverse Meromelie |
| es | Ausencia aislada de antebrazo y mano | Meromelia terminal transversa congénita aislada de radio-cúbito |
| it | Assenza isolata combinata dell'avambraccio e della mano | Meromelia congenita isolata radioulnare trasversale terminale |
| nl | Geïsoleerde afwezigheid van onderarm en hand | Geïsoleerde congenitale radio-ulnaire terminale transversale meromelie |
| pt | Ausência isolada do antebraço e mão | Meromelia terminal transversa radio-cubital isolada congénita |
| pl | Izolowany brak przedramienia i dłoni | = en |
| cs | Vrozené chybění předloktí a ruky | Radio-ulnární terminální transverzální meromelie |
| uk | Ізольована відсутність передпліччя та кисті | Ізольована вроджена радіоульнарна термінальна поперечна меромелія |
| zh | 先天性前臂和手部缺失 | 桡尺末端横贯残肢畸形 |
| tr | Doğumsal ön kol ve el yokluğu | Radyo-ulnar terminal transvers meromeli |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q71.2 | E | specific | validated |
| ICD-11 | LB99.5 | E | specific | validated |
| MONDO | 0017443 | E | validated | |
| UMLS | C5925020 | 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:498491Non-syndromic complete hemimelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295093OBSOLETE: Congenital absence of both forearm and hand, unilateral referred to · inactive
- ORPHA:295095OBSOLETE: Congenital absence of both forearm and hand, bilateral referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294979
- This record as JSON: /data/d/294979.json