ORPHA:96167
Recombinant 8 syndrome
Synonyms: Duplication 8q/deletion 8p · Rec(8) syndrome · Rec8 syndrome · Recombinant chromosome 8 syndrome · San Luis Valley syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recombinant 8 syndrome | Duplication 8q/deletion 8p · Rec(8) syndrome · Rec8 syndrome · Recombinant chromosome 8 syndrome · San Luis Valley syndrome |
| fr | Syndrome du chromosome 8 recombinant | Duplication 8q/délétion 8p · Syndrome Rec8 · Syndrome de San Luis Valley |
| de | Rekombinantes 8-Syndrom | Duplikation 8q/Deletion 8p · Rec(8)-Syndrom · Rec8-Syndrom · Rekombinantes Chromosom 8-Syndrom · San Luis Valley-Syndrom |
| es | Síndrome del cromosoma 8 recombinante | Dupliación 8q/deleción 8p · Síndrome Rec(8) · Síndrome Rec8 · Síndrome del Valle de San Luis |
| it | Sindrome 8 ricombinante | Duplicazione 8q/delezione 8p · Sindrome Rec(8) · Sindrome Rec8 · Sindrome del cromosoma 8 ricombinante · Sindrome di San Luis Valley |
| nl | Recombinant 8-syndroom | Duplicatie 8q/deletie 8p · Rec(8)-syndroom · Rec8-syndroom · Recombinant chromosoom 8-syndroom · San-Luis-Valleysyndroom |
| pt | Síndrome de San Luis Valley | |
| pl | Zespół rekombinacji chromosomu 8 | Duplikacja 8q/delecja 8p · Zespół Rec(8) · Zespół Rec8 · Zespół rekombinowanego chromosomu 8 · Zespół San Luis Valley |
| cs | Rekombinantní chromozom 8 | Duplikace 8q/delece 8p · Rec(8) syndrom · Rec8 syndrom · Syndrom rekombinantního chromozomu 8 · Syndrom San Luis Valley |
| uk | Синдром рекомбінантної хромосоми 8 | Дуплікація 8q/делеція 8p · Синдром Rec(8) · Синдром Rec8 · Синдром рекомбінантної хромосоми 8 · Синдром долини Сан-Луїс |
| zh | 8号染色体重组综合征 | 8号染色体重组综合征 |
| tr | Rekombinant 8 sendromu | Rec8 sendromu · Rec (8) sendromu · San Luis Valley sendromu · Duplikasyon 8q / delesyon 8p · Rekombinant kromozom 8 sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 179613 | E | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD41.P | NTBT | index | validated |
| MONDO | 0008365 | E | validated | |
| MeSH | C535296 | E | validated | |
| UMLS | C0795822 | E | validated | |
| GARD | 9698 | 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:263708Complex chromosomal rearrangement syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
46 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001595 | Abnormality of the hair | |
| HP:0000463 | Anteverted nares | |
| HP:0000028 | Cryptorchidism | |
| HP:0001869 | Deep plantar creases | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0100729 | Large face | |
| HP:0002162 | Low posterior hairline | |
| HP:0000347 | Micrognathia | |
| HP:0001582 | Redundant skin | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000464 | Abnormality of the neck | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0001631 | Atrial septal defect | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000389 | Chronic otitis media | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000365 | Hearing impairment | |
| HP:0000050 | Hypoplastic male external genitalia | |
| HP:0000369 | Low-set ears | |
| HP:0006443 | Patellar aplasia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000767 | Pectus excavatum | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000046 | Small scrotum | |
| HP:0001257 | Spasticity | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0012471 | Thick vermilion border | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0004378 | Abnormality of the anus | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96167
- This record as JSON: /data/d/96167.json