ORPHA:2008
Acrocardiofacial syndrome
Synonyms: ACFS · CCGE syndrome · Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrocardiofacial syndrome | ACFS · CCGE syndrome · Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome |
| fr | Syndrome acrocardiofacial | ACFS · Syndrome CCGE · Syndrome de fente palatine-cardiopathie-anomalies génitales-ectrodactylie |
| de | Akro-kardio-faziales Syndrom | ACFS · CCGE-Syndrom · Gaumenspalte - Herzfehler - Genitalanomalien - Ektrodaktylie |
| es | Síndrome acro-cardio-facial | ACFS · Síndrome CCGE · Síndrome de paladar hendido-defecto cardíaco-anomalías genitales-ectrodactilia |
| it | Palatoschisi - difetto cardiaco - anomalie dei genitali - ectrodattilia | Sindrome CCGE · Sindrome acro-cardio-facciale |
| nl | Acrocardiofaciaal syndroom | ACFS · CCGE-syndroom · Gespleten gehemelte - hartdefect - genitale anomalieën - ectrodactylie-syndroom |
| pt | Síndrome acro-cardio-facial | ACFS · Síndrome CCGE · Síndrome de fenda do palato-anomalia cardíaca-anomalias genitais-ectrodactilia |
| pl | Zespół kończynowo-sercowo-twarzowy | ACFS · Zespół CCGE · Zespół rozszczepu podniebienia, wady serca, wad narządów płciowych i ektrodaktylii |
| cs | Akrokardiofaciální syndrom | ACFS · CCGE syndrom · Syndrom zahrnující rozštěp patra, defekt srdce, anomálie genitálu a ektrodaktylii |
| uk | Акрокардіофаціальний синдром | ACFS · Синдром CCGE · Синдром розщілини піднебіння - серцевої вади - аномалії статевих органів - ектродактилії |
| zh | Acrocardiofacial综合症 | 腭裂-心脏缺陷-生殖器-缺指（趾）畸形综合症 |
| tr | Akrokardiyofasiyal sendrom | ACFS · CCGE sendromu · Yarık damak-kalp defekti-genital anomaliler-ektrodaktili sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600460 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010890 | E | validated | |
| MeSH | C563936 | E | validated | |
| UMLS | C1838121 | E | validated | |
| GARD | 1167 | 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1894Ectrodactyly-spina bifida-cardiopathy syndrome moved to · inactive
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 | 10 cases | Worldwide | Case(s) | Validated | 20920258[PMID]_1746602[PMID]_15937946[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20920258[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
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0000028 | Cryptorchidism | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000527 | Long eyelashes | |
| HP:0001839 | Split foot | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0002023 | Anal atresia | |
| HP:0001631 | Atrial septal defect | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001522 | Death in infancy | |
| HP:0006101 | Finger syndactyly | |
| HP:0001829 | Foot polydactyly | |
| HP:0001822 | Hallux valgus | |
| HP:0000836 | Hyperthyroidism | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0001373 | Joint dislocation | |
| HP:0001718 | Mitral stenosis | |
| HP:0000520 | Proptosis | |
| HP:0001250 | Seizure | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001770 | Toe syndactyly | |
| HP:0001660 | Truncus arteriosus | |
| HP:0100589 | Urogenital fistula | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2008
- This record as JSON: /data/d/2008.json