ORPHA:1340
Cardiofaciocutaneous syndrome
Synonyms: CFC syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiofaciocutaneous syndrome | CFC syndrome |
| fr | Syndrome cardio-facio-cutané | Syndrome CFC |
| de | Kardio-fazio-kutanes Syndrom | CFC-Syndrom |
| es | Síndrome cardio-facio-cutáneo | Síndrome CFC |
| it | Sindrome cardio-facio-cutanea | Sindrome CFC |
| nl | Cardiofaciocutaan syndroom | CFC-syndroom |
| pt | Síndrome cardio-facio-cutâneo | Síndrome CFC |
| pl | Zespół sercowo-twarzowo-skórny | Zespół CFC |
| cs | Kardiofaciokutánní syndrom | CFC syndrom |
| uk | Кардіо-фаціо-кутанний синдром | Синдром CFC |
| zh | 心面皮肤综合征 | CFC综合征 |
| tr | Kardiyofasiyokütanöz sendrom | CFC sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115150 | E | validated | |
| OMIM | 615278 | BTNT | validated | |
| OMIM | 615279 | BTNT | validated | |
| OMIM | 615280 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0015280 | E | validated | |
| MeSH | C535579 | E | validated | |
| UMLS | C1275081 | E | validated | |
| GARD | 9146 | E | validated | |
| MedDRA | 10082805 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - 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:98733Noonan syndrome and Noonan-related syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRAF | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 20301365[PMID]_16825433[PMID] |
| KRAS | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 20301365[PMID]_16825433[PMID] |
| MAP2K1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6840 | ENSG00000169032 | 176872 | 15q22.31 | mitogen-activated protein kinase kinase 1 | 20301365[PMID]_16825433[PMID] |
| MAP2K2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6842 | ENSG00000126934 | 601263 | 19p13.3 | mitogen-activated protein kinase kinase 2 | 20301365[PMID]_16825433[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.12 / 100 000 | Japan | Value and class | Validated | 22495831[PMID] |
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 22495831[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
6
HPO phenotypes
79 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000463 | Anteverted nares | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0001631 | Atrial septal defect | |
| HP:0002299 | Brittle hair | |
| HP:0000280 | Coarse facial features | |
| HP:0000958 | Dry skin | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002213 | Fine hair | |
| HP:0000293 | Full cheeks | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000276 | Long face | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0004322 | Short stature | |
| HP:0000391 | Thickened helices | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Frequent (79-30%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0004422 | Biparietal narrowing | |
| HP:0001048 | Cavernous hemangioma | |
| HP:0000028 | Cryptorchidism | |
| HP:0006191 | Deep palmar crease | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0002353 | EEG abnormality | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000316 | Hypertelorism | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0008064 | Ichthyosis | |
| HP:0000343 | Long philtrum | |
| HP:0002162 | Low posterior hairline | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0001003 | Multiple lentigines | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000767 | Pectus excavatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001622 | Premature birth | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0002217 | Slow-growing hair | |
| HP:0008070 | Sparse hair | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0000486 | Strabismus | |
| HP:0000465 | Webbed neck | |
| Occasional (29-5%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002967 | Cubitus valgus | |
| HP:0001260 | Dysarthria | |
| HP:0012719 | Functional abnormality of the gastrointestinal tract | |
| HP:0002857 | Genu valgum | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001004 | Lymphedema | |
| HP:0000648 | Optic atrophy | |
| HP:0001582 | Redundant skin | |
| HP:0000176 | Submucous cleft hard palate | |
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/1340
- This record as JSON: /data/d/1340.json