Isolated absence of upper arm and forearm with hand present
Synonyms: Isolated congenital humero-radio-ulnar intercalary transverse meromelia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated absence of upper arm and forearm with hand present | Isolated congenital humero-radio-ulnar intercalary transverse meromelia |
| fr | Absence isolée du bras et de l'avant-bras avec main conservée | Méromélie intercalaire transverse huméro-radio-cubitale isolée · Méromélie intercalaire transverse huméro-radio-ulnaire isolée |
| de | Isoliertes Fehlen von Ober- und Unterarm bei vorhandener Hand | Isolierte kongenitale humero-radioulnare interkalartransverse Meromelie |
| es | Ausencia aislada de la parte superior del brazo y el antebrazo con presencia de la mano | Meromelia intercalar transversa húmero-radio-cubital congénita aislada |
| it | Aplasia isolata del braccio e dell'avambraccio con presenza della mano | Meromelia omero-radio-ulnare trasversale intercalare congenita isolata |
| nl | Geïsoleerde congenitale afwezigheid van bovenarm en onderarm met hand aanwezig | Geïsoleerde humeroradio-ulnaire intercalaire transversale meromelie |
| pt | Ausência isolada do braço e antebraço com mão presente | Meromelia intercalar transversa úmero-radio-ulnar isolada congénita |
| pl | Izolowany brak ramienia i przedramienia przy obecności ręki | Fokomelia |
| cs | Vrozené chybění nadloktí a předloktí s přítomností ruky | Humero-radio-ulnární interkalární transverzální meromelie · Fokomelie horní končetiny |
| uk | Ізольована відсутність плеча та передпліччя при наявності кисті | Ізольована вроджена гумеро-радіо-ульнарна інтеркалярна поперечна меромелія |
| zh | 先天性上臂和前臂缺失并有手部存在 | 肱-桡-尺骨干横贯残肢畸形 |
| tr | Doğumsal el mevcutken üst kol ve ön kol yokluğu | Humero-radioulnar interkalar transvers meromeli |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q71.1 | E | specific | validated |
| ICD-11 | LB99.4 | E | specific | validated |
| MONDO | 0017441 | E | validated | |
| UMLS | C5925022 | E | validated | |
| GARD | 12123 | 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:294927Non-syndromic intercalary limb defects
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295085OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral referred to · inactive
- ORPHA:295087OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 / 100 000 | Worldwide | Value and class | Validated | 22002800[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_22002800[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
18 annotations · validated 2021-05-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009813 | Upper limb phocomelia | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0033127 | Abnormality of the musculoskeletal system | |
| HP:0000464 | Abnormality of the neck | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0003826 | Stillbirth | |
| Very rare (<4-1%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000175 | Cleft palate | |
| HP:0011603 | Congenital malformation of the great arteries | |
| HP:0010442 | Polydactyly | |
| HP:0000104 | Renal agenesis | |
| HP:0001518 | Small for gestational age | |
| HP:0001159 | Syndactyly | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 3890511[PMID]_22002800[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294975
- This record as JSON: /data/d/294975.json