Dysmorphism-pectus carinatum-joint laxity syndrome
historical
Synonyms: Guízar Vázquez-Sánchez-Manzano syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterised by joint laxity, pectus carinatum and facial dysmorphism (including mild frontal bossing, lateral displacement of the inner canthi, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). There have been no further descriptions in the literature since 1980.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysmorphism-pectus carinatum-joint laxity syndrome | Guízar Vázquez-Sánchez-Manzano syndrome |
| fr | Syndrome de dysmorphie-pectus carinatum-laxité ligamentaire | Syndrome de Guízar Vázquez-Sánchez-Manzano |
| de | Dysmorphien-Pectus carinatum-schlaffe Gelenke-Syndrom | Guízar Vázquez-Sánchez-Manzano-Syndrom |
| es | Síndrome de dismorfia-pectus carinatum-laxitud articular | Síndrome de Guízar Vázquez-Sánchez-Manzano |
| it | Dismorfismi - pectus carenatum - lassità articolare | Sindrome di Guízar Vázquez-Sánchez-Manzano |
| nl | Dysmorfie - pectus carinatum - gewrichtslaxiteit-syndroom | Syndroom van Guízar Vázquez-Sánchez-Manzano |
| pt | Síndrome de dismorfia-pectus carinatum-hipermobilidade articular | Síndrome Guizar-Vasquez-Sanchez-Manzano |
| pl | Dysmorfia- klatka piersiowa kurza -luźność stawów | Zespół Guizar Vazqueza, Sancheza i Manzano |
| cs | Syndrom zahrnující dysmorfismus, pectus carinatum a zvýšenou kloubní laxicitu | Guízar Vázquezův-Sánchezův-Manzanův syndrom · Guízar Vázquez-Sánchez-Manzanův syndrom |
| uk | Синдром дисморфізму-pectus carinatum-слабкості суглобів | Синдром Гісара Васкеса-Санчеса-Мансано |
| zh | 外貌畸形-鸡胸-关节松弛综合征 | Guízar Vázquez-Sánchez-Manzano综合征 |
| tr | Dismorfizm-pektus karinatum-eklem laksitesi sendromu | Guízar Vázquez-Sánchez-Manzano sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0016219 | E | validated | |
| UMLS | C4518558 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 7438507[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7438507[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000444 | Convex nasal ridge | |
| HP:0002002 | Deep philtrum | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000293 | Full cheeks | |
| HP:0002857 | Genu valgum | |
| HP:0001382 | Joint hypermobility | |
| HP:0000272 | Malar flattening | |
| HP:0000768 | Pectus carinatum | |
| HP:0000506 | Telecanthus | |
| HP:0010804 | Tented upper lip vermilion | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2104
- This record as JSON: /data/d/2104.json