Metaphyseal chondrodysplasia, Jansen type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal chondrodysplasia, Jansen type | |
| fr | Chondrodysplasie métaphysaire type Jansen | |
| de | Chondrodysplasie, metaphysäre, Typ Jansen | |
| es | Condrodisplasia metafisaria tipo Jansen | |
| it | Condrodisplasia metafisaria, tipo Jansen | |
| nl | Metafysaire chondrodysplasie, Jansen-type | |
| pt | Condrodisplasia metafisária tipo Jansen | |
| pl | Chondrodysplazja przynasadowa typu Jansena | |
| cs | Metafyzární chondrodysplázie Jansen | |
| uk | Метафізарна хондродисплазія, тип Янсена | |
| zh | 干骺端软骨发育不良，Jansen型 | |
| tr | Metafizeal kondrodisplazi, Jansen tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156400 | E | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD24.7 | NTBT | index | validated |
| MONDO | 0007982 | E | validated | |
| MeSH | C537564 | E | validated | |
| UMLS | C0265295 | E | validated | |
| GARD | 79 | 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 |
|---|---|---|---|---|---|---|---|---|
| PTH1R | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9608 | ENSG00000160801 | 168468 | 3p21.31 | parathyroid hormone 1 receptor | 7701349[PMID]_8703170[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 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
25 annotations · validated 2025-01-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0006487 | Bowing of the long bones | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0000218 | High palate | |
| HP:0003080 | Hydroxyprolinuria | |
| HP:0003072 | Hypercalcemia | |
| HP:0002150 | Hypercalciuria | |
| HP:0000316 | Hypertelorism | |
| HP:0002148 | Hypophosphatemia | |
| HP:0000347 | Micrognathia | |
| HP:0000938 | Osteopenia | |
| HP:0002694 | Sclerosis of skull base | |
| HP:0002753 | Thin bony cortex | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0200138 | Bilateral choanal atresia/stenosis | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000293 | Full cheeks | |
| HP:0034392 | Joint contracture | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000520 | Proptosis | |
| HP:0000883 | Thin ribs | |
| HP:0010537 | Wide cranial sutures | |
| Excluded (0%) | ||
| HP:0003165 | Elevated circulating parathyroid hormone level | |
Annotation source: 20301736[PMID]_39086440[PMID]_29566257[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33067
- This record as JSON: /data/d/33067.json