Metaphyseal anadysplasia
Synonyms: Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal anadysplasia | Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia |
| fr | Anadysplasie métaphysaire | Dysplasie métaphysaire régressive · Syndrome de Maroteaux-Verloes-Stanescu |
| de | Anadysplasie, metaphysäre | Maroteaux-Verloes-Stanescu-Syndrom |
| es | Anadisplasia metafisaria | Displasia metafisaria regresiva · Síndrome de Maroteaux-Verloes-Stanescu |
| it | Anadisplasia metafisaria | Displasia metafisaria regressiva · Sindrome di Maroteaux-Verloes-Stanescu |
| nl | Metafysaire anadysplasie | Regressieve metafysaire dysplasie · Syndroom van Maroteaux-Verloes-Stanescu |
| pt | Anadisplasia metafisária | |
| pl | Anadysplazja przynasadowa | Dysplazja przynasadowa regresywna · Zespół Maroteaux, Verloesa i Stanescu |
| cs | Metafyzární anadysplázie | Regresivní metafyzární dysplázie · Maroteauxův-Verloesův-Stanescův syndrom · Maroteaux-Verloes-Stanescův syndrom |
| uk | Метафізарна анадисплазія | Синдром Марото-Верлоеса-Станеску · Регресивна метафізарна дисплазія |
| zh | 干骺端发育不良 | Maroteaux-Verloes-Stanescu综合征 |
| tr | Metafizeal anadisplazi | Gerileyen metafizyal displazi · Maroteaux-Verloes-Stanescu sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602111 | NTBT | validated | |
| OMIM | 613073 | BTNT | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD24.7 | NTBT | index | validated |
| MONDO | 0015177 | E | validated | |
| MeSH | C537351 | E | validated | |
| UMLS | C0432226 | E | validated | |
| GARD | 3562 | 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:93430Multiple metaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MMP13 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:7159 | ENSG00000137745 | 600108 | 11q22.2 | matrix metallopeptidase 13 | 19615667[PMID]_24781753[PMID] |
| MMP13 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7159 | ENSG00000137745 | 600108 | 11q22.2 | matrix metallopeptidase 13 | 19615667[PMID]_24781753[PMID] |
| MMP9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7176 | ENSG00000100985 | 120361 | 20q13.12 | matrix metallopeptidase 9 | 19615667[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0004039 | Abnormality of ulnar metaphysis | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001387 | Joint stiffness | |
| HP:0004322 | Short stature | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1040
- This record as JSON: /data/d/1040.json