Cardiospondylocarpofacial syndrome
Synonyms: Forney syndrome · Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome · Mitral regurgitation-hearing loss-skeletal anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiospondylocarpofacial syndrome | Forney syndrome · Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome · Mitral regurgitation-hearing loss-skeletal anomalies syndrome |
| fr | Syndrome cardio-spondylo-carpo-facial | Syndrome d'anomalie de la valve mitrale-surdité-anomalie squelettique · Syndrome de Forney · Syndrome de Forney-Robinson-Pascoe |
| de | Kardio-spondylo-carpo-faziales Syndrom | Forney-Robinson-Pascoe-Syndrom · Forney-Syndrom · Mitralinsuffizienz - Schwerhörigkeit - Skelettfehlbildungen |
| es | Síndrome cardio-espondilo-carpo-facial | Síndrome de Forney · Síndrome de Forney-Robinson-Pascoe · Síndrome de insuficiencia mitral-hipoacusia-anomalías esqueléticas · Síndrome de insuficiencia mitral-sordera-anomalías esqueléticas |
| it | Sindrome cardio-spondilo-carpo-facciale | Regurgito mitralico - sordità - anomalie scheletriche · Sindrome di Forney · Sindrome di Forney-Robinson-Pascoe |
| nl | Cardiospondylocarpofaciaal syndroom | Mitralisklepregurgitatie - doofheid - skeletanomalieën-syndroom · Mitralisklepregurgitatie - gehoorverlies - skeletanomalieën-syndroom · Syndroom van Forney · Syndroom van Forney-Robinson-Pascoe |
| pt | Síndrome cardio-espondilo-carpo-facial | Síndrome Forney · Síndrome Forney-Robinson-Pascoe · Síndrome de regurgitação mitral-perda auditiva-anomalias ósseas · Síndrome de regurgitação mitral-surdez-anomalias ósseas |
| pl | Zespół sercowo-kręgowo-nadgarstkowo-twarzowy | Niedomykalność zastawki mitralnej - głuchota - wady szkieletu · Zespół Forney'a · Zespół Forney'a, Robinsona i Pascoe |
| cs | Kardiospondylokarpofaciální syndrom | Syndrom zahrnující mitrální regurgitaci, hluchotu a anomálie skeletu · Forneyův syndrom · Forneyův-Robinsonův-Pascoův syndrom · Forney-Robinson-Pascoův syndrom |
| uk | Кардіоспондилокарпофаціальний синдром | Синдром Форні · Синдром Форні-Робінсона-Паскоу · Синдром мітральної регургітації-глухоти-скелетних аномалій · Синдром мітральної регургітації-глухоти-скелетних аномалій |
| zh | 心脏-脊柱-腕-面综合征 | 二尖瓣反流-听力丧失-骨骼异常综合征 |
| tr | Kardiyospondilokarpofasiyal sendrom | Forney sendromu · Forney-Robinson-Pascoe sendromu · Mitral yetersizlik-sağırlık-iskelet anomalileri sendromu · Mitral yetersizlik-işitme kaybı-iskelet anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 157800 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0008005 | E | validated | |
| MeSH | C537269 | E | validated | |
| UMLS | C2931461 | E | validated | |
| GARD | 2362 | 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 (1):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAP3K7 | Disease-causing germline mutation(s) in | Assessed | HGNC:6859 | ENSG00000135341 | 602614 | 6q15 | mitogen-activated protein kinase kinase kinase 7 | 27426734[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 5901343[PMID]_20186786[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5901343[PMID]_20186786[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 2017-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001156 | Brachydactyly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002705 | High, narrow palate | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0003510 | Severe short stature | |
| HP:0004279 | Short palm | |
| HP:0005048 | Synostosis of carpal bones | |
| Frequent (79-30%) | ||
| HP:0006352 | Failure of eruption of permanent teeth | |
| HP:0000692 | Tooth malposition | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3238
- This record as JSON: /data/d/3238.json