Thoracomelic dysplasia
historical
Synonyms: Rivera-Perez-Salas syndrome · Thoracolimb dysplasia, Rivera type
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- historical
A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thoracomelic dysplasia | Rivera-Perez-Salas syndrome · Thoracolimb dysplasia, Rivera type |
| fr | Dysplasie thoracomélique | Dysplasie du thorax et des membres type Rivera · Syndrome de Rivera-Perez-Salas |
| de | Dysplasie, thorakomelische | Rivera-Perez-Salas-Syndrom · Thorax- und Gliedmaßendysplasie Typ Rivera |
| es | Displasia toracomélica | Displasia toracomélica tipo Rivera · Síndrome de Rivera-Perez-Salas |
| it | Displasia toracomelica | Sindrome di Rivera-Perez-Salas |
| nl | Thoracomelische dysplasie | Dysplasie van thorax en ledematen, Rivera-type · Syndroom van Rivera-Perez-Salas |
| pt | Displasia toracomélica | Displasia do tórax e membros, tipo Rivera · Síndrome Rivera-Perez-Salas |
| pl | Dysplazja piersiowo-kończynowa | Rivera-Perez-Salas syndrome |
| cs | Thorakomelická dysplázie | Riverův-Perezův-Salasův syndrom · Rivera-Perez-Salasův syndrom |
| uk | Торакомелічна дисплазія | Синдром Рівера-Переса-Саласа · Тораколімфатична дисплазія, тип Рівера |
| zh | 胸骨发育不良 | 胸肢畸形，Rivera型 |
| tr | Torakomelik displazi | Rivera-Perez-Salas sendromu · Thoracolimb displazisi, Rivera tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 273740 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.BY | NTBT | index | validated |
| MONDO | 0010116 | E | validated | |
| MeSH | C564773 | E | validated | |
| UMLS | C1848863 | 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 (2):
- ORPHA:93426Ciliopathies with major skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3184141[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3184141[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0001591 | Bell-shaped thorax | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0003042 | Elbow dislocation | |
| HP:0012368 | Flat face | |
| HP:0002857 | Genu valgum | |
| HP:0003307 | Hyperlordosis | |
| HP:0001382 | Joint hypermobility | |
| HP:0009826 | Limb undergrowth | |
| HP:0002162 | Low posterior hairline | |
| HP:0000774 | Narrow chest | |
| HP:0000311 | Round face | |
| HP:0000773 | Short ribs | |
| Occasional (29-5%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0000470 | Short neck | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1803
- This record as JSON: /data/d/1803.json