ORPHA:1509
Coxopodopatellar syndrome
Synonyms: Ischiocoxopodopatellar syndrome · Ischiopatellar dysplasia · Ischiopubicpatellar syndrome · SPS · Scott-Taor syndrome · Small patella syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic condition characterized by the association of patellar aplasia or hypoplasia, pelvic abnormalities, and foot malformations, with or without pulmonary arterial hypertension.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coxopodopatellar syndrome | Ischiocoxopodopatellar syndrome · Ischiopatellar dysplasia · Ischiopubicpatellar syndrome · SPS · Scott-Taor syndrome · Small patella syndrome |
| fr | Syndrome coxo-podo-patellaire | Dysplasie ischio-patellaire · Syndrome de Scott-Taor · Syndrome de la petite rotule · Syndrome ischio-coxo-podo-patellaire · Syndrome ischio-pubien-patellaire |
| de | Small-Patella-Syndrom | Coxo-podo-patellares Syndrom · Dysplasie, ischiopatellare · SPS · Scott-Taor-Syndrom |
| es | Síndrome coxo-podo-patelar | Displasia isquiopatelar · Síndrome de Scott-Taor · Síndrome de rótula parva · Síndrome isquiocoxopodopatelar · Síndrome isquiopubicopatelar |
| it | Sindrome coxo-podo-patellare | Displasia ischio-patellare · SPS · Sindrome di Scott-Taor · Sindrome da ipoplasia della rotula · Sindrome ischiocoxopodopatellare · Sindrome ischiopubicopatellare |
| nl | Coxopodopatellair syndroom | Ischiocoxopodopatellair syndroom · Ischiopatellaire dysplasie · Ischiopubisch-patellair syndroom · Kleine patella-syndroom · SPS · Syndroom van Scott-Taor |
| pt | Síndrome coxo-podo-rotuliana | Displasia isquio-rotuliana · SPS · Síndrome Scott-Taor · Síndrome da rótula pequena · Síndrome isquio-coxo-podo-rotuliana · Síndrome isquio-pubis-rotuliana |
| pl | Zespół biodrowo-podeszwowo-rzepkowy | Dysplazja kulszowo-rzepkowa · SPS · Zespół małej rzepki · Zespół Scotta i Taora |
| cs | Koxopodopatelární syndrom | Ischiopatelární dysplázie · SPS · Syndrom malé pately · Scottův-Taorův syndrom · Scott-Taorův syndrom |
| uk | Коксоподопателлярний синдром | Іхіопателлярна дисплазія · Синдром Скотта-Таора · Синдром малого надколінка · SPS |
| zh | 小髌骨综合征 | 坐骨-髌骨发育不良 |
| tr | Koksopodopatellar sendromu | SPS · Scott-Taor sendromu · Küçük patella sendromu · Ischiopatellar displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147891 | E | validated | |
| ICD-10 | Q74.1 | NTBT | attributed | validated |
| ICD-11 | LD24.JY | NTBT | index | validated |
| MONDO | 0007841 | E | validated | |
| MeSH | C535540 | E | validated | |
| UMLS | C1840061 | E | validated | |
| GARD | 3030 | E | validated | |
| MedDRA | 10086423 | 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:93455Patellar dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3112Patella aplasia-coxa vara-tarsal synostosis syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11603 | ENSG00000121075 | 601719 | 17q23.2 | T-box transcription factor 4 | 15106123[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 47 cases | Worldwide | Case(s) | Validated | 11303519[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11303519[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.
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HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002815 | Abnormality of the knee | |
| HP:0006498 | Aplasia/Hypoplasia of the patella | |
| Frequent (79-30%) | ||
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0001385 | Hip dysplasia | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1509
- This record as JSON: /data/d/1509.json