ORPHA:2649
Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome
inactive · moved to ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome
Synonyms: Richieri Costa-Guion Almeida syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Baraitser-Winter cerebrofrontofacial syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome | Richieri Costa-Guion Almeida syndrome |
| fr | Syndrome de nanisme-déficience intellectuelle-anomalies oculaires-fente labiopalatine | Nanisme de Richieri Costa-Guion Almeida |
| de | Kleinwuchs-Intelligenzminderung-Augenanomalien-Lippen-Gaumen-Spalte-Syndrom | Richieri Costa-Guion Almeida-Syndrom |
| es | Síndrome de talla baja-discapacidad intelectual-anomalías oculares-fisura labiopalatina | Síndrome de Richieri Costa-Guion Almeida |
| it | Sindrome nanismo-disabilità intellettiva-anomalie oculari-schisi labiopalatina | Nanismo di Richieri Costa-Guion Almeida |
| nl | Kleine gestalte - intellectuele achterstand - ooganomalieën - gespleten lip/verhemelte-syndroom | Syndroom van Richieri Costa-Guion Almeida |
| pt | Síndrome de baixa estatura-perturbação do desenvolvimento intelectual-anomalias oculares-fenda lábio-palato | Síndrome Richieri Costa-Guion-Almeida |
| pl | Niski wzrost - niepełnosprawność intelektualna - anomalie oczu - rozszczep wargi/podniebienia | Zespół Richieri Costa i Guion Almeida |
| cs | Syndrom zahrnující malý vzrůst, mentální retardaci, oční anomálie a rozštěp rtu/patra | Richieri Costův-Guion Almeidaové syndrom · Richieri Costa-Guion Almeidaové syndrom |
| uk | Синдром низькорослості-розумової відсталості-аномалії очей-розщілини губи/піднебіння | Синдром Річчієрі Коста-Гіона Альмейда |
| zh | 矮小-智力残疾-眼畸形-唇/腭裂综合征 | Richieri Costa-Guion Almeida 综合征 |
| tr | Kısa boy-zihinsel yetersizlik-göz anomalileri-yarık dudak / damak sendromu | Richieri Costa-Guion Almeida sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243310 | E | validated | |
| UMLS | C2930979 | 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
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2649
- This record as JSON: /data/d/2649.json