ORPHA:2632
Langer mesomelic dysplasia
Synonyms: Mesomelic dwarfism, Langer type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Langer mesomelic dysplasia | Mesomelic dwarfism, Langer type |
| fr | Dysplasie mésomélique type Langer | Nanisme mésomélique type Langer |
| de | Kleinwuchs, mesomeler, Typ Langer | |
| es | Displasia mesomélica de Langer | Enanismo mesomélico tipo Langer |
| it | Displasia mesomelica di Langer | Nanismo mesomelico tipo Langer |
| nl | Mesomele dysplasie van Langer | Mesomele dwerggroei, Langer-type |
| pt | Displasia mesomélica de Langer | Nanismo mesomélico tipo Langer |
| pl | Dysplazja mezomeliczna Langera | Karłowatość mezomeliczna typu Langera |
| cs | Langerova mezomelická dysplázie | Mezomelické trpaslictví, Langerův typ |
| uk | Мезомелічна дисплазія Лангера | Мезомелічна карликовість, тип Лангера |
| zh | Langer肢中部发育不良 | 肢中骨发育不良，Langer型 |
| tr | Langer mezomelik displazi | Mezomelik cücelik, Langer tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249700 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0009588 | E | validated | |
| MeSH | C537267 | E | validated | |
| UMLS | C0432230 | E | validated | |
| GARD | 3553 | 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:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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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 | 12116254[PMID]_20301394[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 23863349[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[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.
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HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001191 | Abnormal carpal morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | |
| HP:0006487 | Bowing of the long bones | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0000218 | High palate | |
| HP:0003067 | Madelung deformity | |
| HP:0005026 | Mesomelic/rhizomelic limb shortening | |
| HP:0002983 | Micromelia | |
| HP:0003510 | Severe short stature | |
| HP:0100864 | Short femoral neck | |
| HP:0009465 | Ulnar deviation of finger | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2632
- This record as JSON: /data/d/2632.json