ORPHA:1973
Faciocardiorenal syndrome
Synonyms: Eastman-Bixler syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Faciocardiorenal syndrome | Eastman-Bixler syndrome |
| fr | Syndrome facio-cardio-rénal | Syndrome d'Eastman-Bixler |
| de | Fazio-kardio-renales Syndrom | Eastman-Bixler-Syndrom |
| es | Síndrome faciocardiorenal | Síndrome de Eastman-Bixler |
| it | Sindrome facio-cardio-renale | Sindrome di Eastman-Bixler |
| nl | Faciocardiorenaal syndroom | Syndroom van Eastman-Bixler |
| pt | Síndrome facio-cardio-renal | Síndrome Eastman-Bixler |
| pl | Zespół twarzowo-sercowo-nerkowy | Zespół Eastmana i Bixlera |
| cs | Faciokardiorenální syndrom | Eastmanův-Bixlerův syndrom · Eastman-Bixlerův syndrom |
| uk | Фаціокардіоренальний синдром | Синдром Істмана-Бікслера |
| zh | 面心肾综合征 | Eastman-Bixler综合征 |
| tr | Fasiyokardiyorenal sendrom | Eastman-Bixler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227280 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009205 | E | validated | |
| MeSH | C536388 | E | validated | |
| UMLS | C0795936 | E | validated | |
| GARD | 2230 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 880742[PMID]_1887846[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_880742[PMID]_1887846[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000316 | Hypertelorism | |
| HP:0000668 | Hypodontia | |
| HP:0001249 | Intellectual disability | |
| HP:0001357 | Plagiocephaly | |
| HP:0000411 | Protruding ear | |
| HP:0000319 | Smooth philtrum | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001706 | Endocardial fibroelastosis | |
| Occasional (29-5%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0000160 | Narrow mouth | |
| HP:0001704 | Tricuspid valve prolapse | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1973
- This record as JSON: /data/d/1973.json