ORPHA:240
Léri-Weill dyschondrosteosis
Synonyms: Léri-Weill syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Léri-Weill dyschondrosteosis | Léri-Weill syndrome |
| fr | Dyschondrostéose de Léri-Weill | Syndrome de Léri-Weill |
| de | Léri-Weill-Dyschondrosteose | Leri-Weill-Syndrom |
| es | Discondrosteosis de Léri-Weill | Síndrome de Léri-Weill |
| it | Discondrosteosi di Léri-Weill | Sindrome di Léri-Weill |
| nl | Dyschondrosteose van Léri-Weill | Syndroom van Léri-Weill |
| pt | Discondrosteose de Léri-Weill | |
| pl | Dyschondrosteoza Lériego i Weilla | Zespół Lériego i Weilla |
| cs | Lériho-Weillova dyschondroosteóza | Lériho-Weillův syndrom · Léri-Weillova dyschondroosteóza · Léri-Weillův syndrom |
| uk | Дисхондростероз Лері-Вейля | Синдром Лері-Вейля |
| zh | LÚri-Weill软骨发育不良 | Léri-Weill综合征 |
| tr | Léri-Weill diskondrosteoz | Léri-Weill sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 127300 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0007481 | E | validated | |
| MeSH | C537119 | E | validated | |
| UMLS | C0265309 | E | validated | |
| GARD | 3224 | 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:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:35688OBSOLETE: Madelung deformity referred to · inactive
- ORPHA:295221OBSOLETE: Madelung deformity, unilateral referred to · inactive
- ORPHA:295223OBSOLETE: Madelung deformity, bilateral referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SHOX | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10853 | ENSG00000185960 | 312865 | Xp22.33 and Yp11.32 | SHOX homeobox | 20301394[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
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
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001191 | Abnormal carpal morphology | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0010624 | Aplastic/hypoplastic toenail | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0006459 | Dorsal subluxation of ulna | |
| HP:0100777 | Exostoses | |
| HP:0002970 | Genu varum | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001387 | Joint stiffness | |
| HP:0006248 | Limited wrist movement | |
| HP:0003067 | Madelung deformity | |
| HP:0003027 | Mesomelia | |
| HP:0002983 | Micromelia | |
| HP:0006443 | Patellar aplasia | |
| HP:0002986 | Radial bowing | |
| HP:0005736 | Short tibia | |
| HP:0002982 | Tibial bowing | |
| HP:0003031 | Ulnar bowing | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0002683 | Abnormality of the calvaria | |
| HP:0003042 | Elbow dislocation | |
| HP:0002857 | Genu valgum | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/240
- This record as JSON: /data/d/240.json