ORPHA:174
Metaphyseal chondrodysplasia, Schmid type
Synonyms: MDSC · SMCD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal chondrodysplasia, Schmid type | MDSC · SMCD |
| fr | Chondrodysplasie métaphysaire type Schmid | |
| de | Chondrodysplasie, metaphysäre, Typ Schmid | = en |
| es | Condrodisplasia metafisaria tipo Schmid | |
| it | Condrodisplasia metafisaria, tipo Schmid | |
| nl | Metafysaire chondrodysplasie, Schmid-type | = en |
| pt | Condrodisplasia metafisária, tipo Schmid | = en |
| pl | Chondrodysplazja przynasadowa typu Schmida | = en |
| cs | Metafyzární chondrodysplázie, Schmidův typ | = en |
| uk | Метафізарна хондродисплазія, тип Шміда | |
| zh | 干骺软骨发育异常Schmid型 | |
| tr | Metafizeal kondrodisplazi, Schmid tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156500 | E | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD24.7 | NTBT | index | validated |
| MONDO | 0007983 | E | validated | |
| MeSH | C537352 | E | validated | |
| UMLS | C0265289 | E | validated | |
| GARD | 7029 | 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:93430Multiple metaphyseal 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 |
|---|---|---|---|---|---|---|---|---|
| COL10A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2185 | ENSG00000123500 | 120110 | 6q22.1 | collagen type X alpha 1 chain | 17403716[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
33 annotations · validated 2020-05-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002812 | Coxa vara | |
| HP:0030299 | Distal femoral metaphyseal abnormality | |
| HP:0009826 | Limb undergrowth | |
| HP:0003021 | Metaphyseal cupping | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0006431 | Proximal femoral metaphyseal abnormality | |
| HP:0025369 | Thick growth plates | |
| HP:0002515 | Waddling gait | |
| Frequent (79-30%) | ||
| HP:0005923 | Abnormalities of the metaphyses of the hand | |
| HP:0000907 | Anterior rib cupping | |
| HP:0009852 | Broad proximal phalanges of the hand | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0045079 | Distal femoral metaphyseal irregularity | |
| HP:0002980 | Femoral bowing | |
| HP:0003015 | Flared metaphysis | |
| HP:0002970 | Genu varum | |
| HP:0001385 | Hip dysplasia | |
| HP:0006028 | Metaphyseal cupping of metacarpals | |
| HP:0006208 | Metaphyseal cupping of proximal phalanges | |
| HP:0006634 | Osteosclerosis of ribs | |
| HP:0003411 | Proximal femoral metaphyseal irregularity | |
| HP:0003026 | Short long bone | |
| HP:0001248 | Short tubular bones of the hand | |
| HP:0005028 | Widened proximal tibial metaphyses | |
| Occasional (29-5%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0002829 | Arthralgia | |
| HP:0002979 | Bowing of the legs | |
| HP:0003301 | Irregular vertebral endplates | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0001513 | Obesity | |
| HP:0000926 | Platyspondyly | |
| HP:0004019 | Radial metaphyseal irregularity | |
| HP:0004042 | Ulnar metaphyseal irregularity | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 15578582[PMID]_31633898[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/174
- This record as JSON: /data/d/174.json