Brachydactyly-elbow wrist dysplasia syndrome
Synonyms: Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly-elbow wrist dysplasia syndrome | Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome |
| fr | Syndrome de brachydactylie-dysplasie des coudes et des poignets | Syndrome de Liebenberg · Syndrome de brachydactylie-dysplasie articulaire |
| de | Brachydaktylie - Ellenbogen-/Handgelenk-Dysplasie | Brachydaktylie - Gelenkdysplasie · Liebenberg-Syndrom |
| es | Síndrome de braquidactilia-displasia de codos y muñecas | Braquidactilia-displasia articular · Síndrome de Liebenberg |
| it | Sindrome da brachidattilia e displasia del polso | Brachidattilia - displasia delle articolazioni · Sindrome di Liebenberg |
| nl | Brachydactylie - elleboog-/polsdysplasie-syndroom | Brachydactylie - gewrichtsdysplasie-syndroom · Syndroom van Liebenberg |
| pt | Síndrome de braquidactilia-displasia do cotovelo e punho | Síndrome Liebenberg |
| pl | Brachdaktylia - dysplazja łokciowo-nadgarstkowa | Brachydaktylia - dysplazja stawów · Zespół Liebenberga |
| cs | Syndrom zahrnující brachydaktylii a dysplázii lokte a zápěstí | Syndrom zahrnující brachydaktylii a kloubní dysplázii · Liebenbergův syndrom |
| uk | Синдром брахідактилії - дисплазії ліктьового суглоба | Синдром брахідактилії - дисплазії суглобів · Синдром Лібенберга |
| zh | 短指畸形-肘腕发育不良综合征 | 短指畸形-关节发育不良综合征 |
| tr | Brakidaktili dirsek bilek displazisi sendromu | Liebenberg sendromu · Brakidaktili eklem displazisi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186550 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0008520 | E | validated | |
| MeSH | C566090 | E | validated | |
| UMLS | C1861313 | E | validated | |
| GARD | 966 | 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 (2):
- ORPHA:498451Dysostosis with brachydactyly without extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93459Syndrome with synostosis or other joint formation defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MACROH2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4740 | ENSG00000113648 | 610054 | 5q31.1 | macroH2A.1 histone | 30711920[PMID] |
| PITX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9004 | ENSG00000069011 | 602149 | 5q31.1 | paired like homeodomain 1 | 23022097[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 23587911[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23587911[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009832 | Abnormal distal phalanx morphology of finger | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0003042 | Elbow dislocation | |
| HP:0001387 | Joint stiffness | |
| HP:0000256 | Macrocephaly | |
| HP:0005048 | Synostosis of carpal bones | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1275
- This record as JSON: /data/d/1275.json