Isolated humeral agenesis/hypoplasia
Synonyms: Isolated congenital absence of humerus · Isolated congenital humeral deficiency · Isolated congenital hypoplasia of humerus · Isolated humeral intercalary meromelia
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated humeral agenesis/hypoplasia | Isolated congenital absence of humerus · Isolated congenital humeral deficiency · Isolated congenital hypoplasia of humerus · Isolated humeral intercalary meromelia |
| fr | Agénésie/hypoplasie de l'humérus isolée | Absence congénitale de l'humérus isolée · Agénésie/hypoplasie humérale isolée · Déficit congénital de l'humérus isolé · Hypoplasie congénitale de l'humérus isolée · Méromélie intercalaire humérale isolée |
| de | Humerus-Agenesie/Hypoplasie, isolierte | Kongenitales Fehlen des Humerus · Isolierte humerale interkalare Meromelie · Isolierte kongenitale Hypoplasie des Humerus · Isoliertes angeborenes Fehlen des Oberarmknochens |
| es | Agenesia/hipoplasia humeral aislada | Ausencia congénita aislada de húmero · Deficiencia congénita aislada de húmero · Hipoplasia congénita aislada de húmero · Meromelia intercalar humeral aislada |
| it | Agenesia/ipoplasia isolata dell'omero | Assenza congenita isolata dell'omero · Deficit congenito isolato dell'omero · Ipoplasia congenita isolata dell'omero · Meromelia intercalare isolata dell'omero |
| nl | Geïsoleerde agenesie/hypoplasie van humerus | Geïsoleerde congenitale afwezigheid van humerus · Geïsoleerde congenitale humerale deficiëntie · Geïsoleerde congenitale hypoplasie van humerus · Geïsoleerde humerale intercalaire meromelie |
| pt | Agenesia/hipoplasia do úmero isolada | Deficiência congénita do úmero isolada · Hipoplasia congénita do úmero isolada · Meromelia intercalar do úmero isolada |
| pl | Izolowana agenezja/hipoplazja kości ramiennej | = en |
| cs | Ageneze/hypoplázie humeru | Humerální interkalární meromelie |
| uk | Ізольована агенезія/гіпоплазія плечової кістки | Ізольована вроджена відсутність плечової кістки · Ізольований вроджений дефект плечового суглоба · Ізольована вроджена гіпоплазія плечової кістки · Ізольована плечова інтеркалярна меромелія |
| zh | 肱骨发育不全/发育不良 | 先天性肱骨发育不良 |
| tr | Humerus agenezisi / hipoplazi | Humerusun doğumsal yokluğu · Humeral interkalar meromeli · Humerusun doğumsal hipoplazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q71.8 | NTBT | index | validated |
| ICD-11 | LB99.1 | E | specific | validated |
| MONDO | 0017440 | E | validated | |
| UMLS | C5925021 | 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:295061OBSOLETE: Humeral agenesis/hypoplasia, unilateral referred to · inactive
- ORPHA:295063OBSOLETE: Humeral agenesis/hypoplasia, 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/294973
- This record as JSON: /data/d/294973.json