ORPHA:93320
Isolated ulnar hemimelia
Synonyms: Isolated congenital longitudinal deficiency of the ulna · Isolated ulnar clubhand · Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital limb malformation characterized by complete or partial absence of the ulna.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated ulnar hemimelia | Isolated congenital longitudinal deficiency of the ulna · Isolated ulnar clubhand · Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia |
| fr | Hémimélie cubitale isolée | Déficit isolé congénital longitudinal de l'ulna · Déficit isolé congénital longitudinal du cubitus · Hémimélie ulnaire isolée · Main bote cubitale isolée · Méromélie cubitale longitudinale isolée · Méromélie ulnaire longitudinale isolée |
| de | Hemimelie, isolierte ulnare | Isolierte angeborene longitudinale Fehlbildung der Elle · Isolierte ulnare Klumphand · Kongenitale longitudinale Ulnadefizienz · Ulnare longitudinale Meromelie |
| es | Hemimelia cubital aislada | Deficiencia cubital del antebrazo aislada · Deficiencia longitudinal congénita aislada del cúbito · Mano zamba cubital aislada · Meromelia longitudinal cubital aislada |
| it | Emimelia ulnare isolata | Deficit longitudinale congenito isolato dell'ulna · Deficit ulnare isolato dell'avambraccio · Difetto congenito longitudinale dell'ulna · Mano torta ulnare · Mano torta ulnare isolata · Meromelia longitudinale ulnare · Meromelia ulnare longitudinale isolata |
| nl | Geïsoleerde hemimelie van ulna | Geïsoleerde congenitale longitudinale deficiëntie van ulna · Geïsoleerde hemimelie van ellepijp · Geïsoleerde ulnaire deficiëntie van onderarm · Geïsoleerde ulnaire klomphand · Geïsoleerde ulnaire longitudinale meromelie |
| pt | Hemimelia cubital isolada | Deficiência cubital do antebraço isolada · Deficiência longitudinal do cúbito isolada congénita · Meromelia cubital longitudinal isolada · Mão em taco cubital isolada |
| pl | Izolowana hemimelia łokciowa | Łokciowe końsko-szpotawe ustawienie ręki · Meromelia łokciowa podłużna · Wrodzone skrócenie podłużne kości łokciowej |
| cs | Ulnární hemimelie | Vrozený longitudinální deficit ulny · Ulnární clubhand · Ulnární longitudinální meromelie |
| uk | Ізольована ліктьова гемімелія | Ізольований вроджений поздовжній дефект ліктьової кістки · Ізольована ліктьова кисть · Ізольований ліктьовий дефект передпліччя · Ізольована ліктьова поздовжня меромелія |
| zh | 尺侧半肢畸形 | 先天性尺骨纵向缺失 |
| tr | Ulnar hemimeli | Ulnar yumru el · Longitudinal ulnar meromeli · Ulnanın doğumsal longitudinal eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q71.5 | E | specific | validated |
| ICD-11 | LB99.3 | E | specific | validated |
| MONDO | 0019670 | E | validated | |
| UMLS | C5925048 | 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:2130Non-syndromic hemimelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295073OBSOLETE: Ulnar hemimelia, bilateral referred to · inactive
- ORPHA:295075OBSOLETE: Ulnar hemimelia, unilateral referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
40 annotations · validated 2019-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| Frequent (79-30%) | ||
| HP:0040070 | Abnormal upper limb bone morphology | |
| HP:0003059 | Abnormality of the radioulnar joints | |
| HP:0009380 | Finger aplasia | |
| HP:0002996 | Limited elbow movement | |
| HP:0002758 | Osteoarthritis | |
| HP:0002986 | Radial bowing | |
| HP:0004059 | Radial club hand | |
| HP:0005773 | Short forearm | |
| HP:0006055 | Ulnar deviated club hands | |
| Occasional (29-5%) | ||
| HP:0009164 | Abnormal calcification of the carpal bones | |
| HP:0010011 | Abnormality of the 3rd metacarpal | |
| HP:0003887 | Abnormality of the humeral heads | |
| HP:0100745 | Abnormality of the humeroulnar joint | |
| HP:0009760 | Antecubital pterygium | |
| HP:0010048 | Aplasia of metacarpal bones | |
| HP:0009281 | Aplasia of the 4th finger | |
| HP:0009238 | Aplasia of the 5th finger | |
| HP:0010331 | Aplasia/Hypoplasia of the 3rd toe | |
| HP:0003316 | Butterfly vertebrae | |
| HP:0009702 | Carpal synostosis | |
| HP:0005879 | Congenital finger flexion contractures | |
| HP:0009471 | Contracture of the proximal interphalangeal joint of the 3rd finger | |
| HP:0010176 | Curved toe phalanx | |
| HP:0003083 | Dislocated radial head | |
| HP:0009959 | Duplication of phalanx of 3rd finger | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0030835 | Elbow pain | |
| HP:0006633 | Glenoid fossa hypoplasia | |
| HP:0100558 | Hemiatrophy of upper limb | |
| HP:0003041 | Humeroradial synostosis | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0001377 | Limited elbow extension | |
| HP:0006376 | Limited elbow flexion | |
| HP:0006467 | Limited shoulder movement | |
| HP:0009701 | Metacarpal synostosis | |
| HP:0003967 | Sclerotic forearm bones | |
| HP:0002650 | Scoliosis | |
| HP:0010301 | Spinal dysraphism | |
| HP:0009813 | Upper limb phocomelia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31524738[PMID]_6630492[PMID]_27843519[PMID]_30712123[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93320
- This record as JSON: /data/d/93320.json