Metaphyseal chondrodysplasia, Spahr type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal chondrodysplasia, Spahr type | |
| fr | Chondrodysplasie métaphysaire type Spahr | |
| de | Chondrodysplasie, metaphysäre, Typ Spahr | |
| es | Condrodisplasia metafisaria tipo Spahr | |
| it | Condrodisplasia metafisaria tipo Spahr | |
| nl | Metafysaire chondrodysplasie, Spahr-type | |
| pt | Condrodisplasia metafisária, tipo Spahr | |
| pl | Chondrodysplazja przynasadowa typu Spahra | |
| cs | Metafyzární chondrodysplázie, Spahrův typ | |
| uk | Метафізарна хондродисплазія, тип Шпара | |
| zh | 干骺端软骨发育不良Spahr型 | |
| tr | Metafizer kondrodisplazi, Spahr tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250400 | E | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD24.7 | NTBT | index | validated |
| MONDO | 0009597 | E | validated | |
| MeSH | C537353 | E | validated | |
| UMLS | C0432225 | E | validated | |
| GARD | 3563 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MMP13 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7159 | ENSG00000137745 | 600108 | 11q22.2 | matrix metallopeptidase 13 | 24648384[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 24648384[PMID]_2225533[PMID]_19615667[PMID]_24781753[PMID]_18553549[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24648384[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0006487 | Bowing of the long bones | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0003498 | Disproportionate short stature | |
| HP:0001288 | Gait disturbance | |
| HP:0002970 | Genu varum | |
| HP:0001385 | Hip dysplasia | |
| HP:0003307 | Hyperlordosis | |
| HP:0005871 | Metaphyseal chondrodysplasia | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0006409 | Progressive leg bowing | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0006385 | Short lower limbs | |
| Frequent (79-30%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000670 | Carious teeth | |
| HP:0002650 | Scoliosis | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2501
- This record as JSON: /data/d/2501.json