ORPHA:93321
Isolated radial hemimelia
Synonyms: Isolated congenital longitudinal deficiency of the radius · Isolated radial club hand · Isolated radial longitidinal meromelia · Isolated radial ray agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare congenital limb malformation characterized by partial or total absence of the radius.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated radial hemimelia | Isolated congenital longitudinal deficiency of the radius · Isolated radial club hand · Isolated radial longitidinal meromelia · Isolated radial ray agenesis |
| fr | Hémimélie radiale isolée | Agénésie du rayon radial isolée · Déficit isolé congénital longitudinal du radius · Main bote radiale isolée · Méromélie longitudinale radiale isolée |
| de | Hemimelie, isolierte radiale | Klumphand, isolierte radiale · Kongenitale isolierte longitudinale Radiusdefizienz · Radiale isolierte longitudinale Meromelie · Radialstrahl-Agenesie, isolierte |
| es | Hemimelia radial aislada | Agenesia aislada del rayo radial · Deficiencia longitudinal congénita aislada del radio · Mano zamba radial aislada · Meromelia longitudinal radial aislada |
| it | Emimelia radiale isolata | Agenesia isolata del raggio radiale · Deficit longitudinale congenito isolato del radio · Mano torta radiale isolata · Meromelia radiale longitudinale isolata |
| nl | Geïsoleerde hemimelie van radius | Geïsoleerde agenesie van radius · Geïsoleerde congenitale longitudinale deficiëntie van radius · Geïsoleerde hemimelie van spaakbeen · Geïsoleerde radiale klomphand · Geïsoleerde radiale longitudinale meromelie |
| pt | Hemimelia radial isolada | Agenésia radial isolada · Deficiência longitudinal do rádio isolada congénita · Meromelia cubital longitudinal isolada · Mão em taco radial isolada |
| pl | Izolowana hemimelia promieniowa | Promieniowe końsko-szpotawe ustawienie ręki · Meromelia promieniowa podłużna · Wrodzone skrócenie podłużne kości promieniowej |
| cs | Radiální hemimelie | Vrozený longitudinální deficit radia · Radiální clubhand · Radiální longitudinální meromelie · Radiální paprskovitá ageneze |
| uk | Ізольована радіальна гемімелія | Ізольована вроджена поздовжня вада променевої кістки · Ізольована радіальна ключка · Ізольована радіальна лонгітидинальна меромелія · Ізольована радіальна променева агенезія |
| zh | 桡侧半肢畸形 | 先天性桡骨纵向缺失 |
| tr | Radyal hemimeli | Radyal yumru el · Radyal ışın agenezisi · Radyal longitidinal meromelia · Radiusun doğumsal longitudinal eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q71.4 | E | specific | validated |
| ICD-11 | LB99.2 | E | specific | validated |
| MONDO | 0019671 | E | validated | |
| UMLS | C5925047 | E | validated | |
| GARD | 225 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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:295069OBSOLETE: Radial hemimelia, unilateral referred to · inactive
- ORPHA:295071OBSOLETE: Radial hemimelia, bilateral referred to · inactive
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMBR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13243 | ENSG00000105983 | 605522 | 7q36.3 | limb development membrane protein 1 | 26394607[PMID] |
| SHH | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | 26394607[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | Validated | 28669420[PMID]_34452798[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | 28669420[PMID]_34452798[PMID]_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
6 annotations · validated 2019-06-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0006501 | Aplasia/Hypoplasia of the radius | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0004243 | Abnormality of the scaphoid | |
| HP:0004252 | Abnormality of the trapezium | |
| HP:0010035 | Aplasia of the 1st metacarpal | |
| HP:0009484 | Deviation of the hand or of fingers of the hand | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 17105006[PMID]_5478898[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93321
- This record as JSON: /data/d/93321.json