CARDIOFACIOCUTANEOUS SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: CFC SYNDROME
CFC1
CFCS
Number of Symptoms 85
OrphanetNr:
OMIM Id: 115150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000126) Hydronephrosis 119 / 7739
2
(HPO:0000176) Submucous cleft hard palate 19 / 7739
3
(HPO:0000185) Cleft soft palate 18 / 7739
4
(HPO:0000194) Open mouth 70 / 7739
5
(HPO:0000280) Coarse facial features 189 / 7739
6
(HPO:0000218) High palate 356 / 7739
7
(HPO:0011220) Prominent forehead 137 / 7739
8
(HPO:0010807) Open bite 6 / 7739
9
(HPO:0000414) Bulbous nose 63 / 7739
10
(HPO:0000316) Hypertelorism 644 / 7739
11
(HPO:0011819) Submucous cleft soft palate 12 / 7739
12
(HPO:0002002) Deep philtrum 42 / 7739
13
(HPO:0005280) Depressed nasal bridge 381 / 7739
14
(HPO:0000347) Micrognathia 426 / 7739
15
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
16
(HPO:0000520) Proptosis 192 / 7739
17
(HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
18
(HPO:0000268) Dolichocephaly 144 / 7739
19
(HPO:0004482) Relative macrocephaly 44 / 7739
20
(HPO:0000689) Dental malocclusion 114 / 7739
21
(HPO:0000341) Narrow forehead 96 / 7739
22
(HPO:0000286) Epicanthus 371 / 7739
23
(HPO:0000639) Nystagmus 555 / 7739
24
(HPO:0000529) Progressive visual loss 54 / 7739
25
(HPO:0000545) Myopia 286 / 7739
26
(HPO:0000486) Strabismus 576 / 7739
27
(HPO:0001093) Optic nerve dysplasia 6 / 7739
28
(HPO:0000657) Oculomotor apraxia 54 / 7739
29
(HPO:0000508) Ptosis 459 / 7739
30
(HPO:0009908) Anterior creases of earlobe 10 / 7739
31
(HPO:0000358) Posteriorly rotated ears 163 / 7739
32
(HPO:0000369) Low-set ears 372 / 7739
33
(HPO:0000365) Hearing impairment 539 / 7739
34
(HPO:0100703) Tongue thrusting 4 / 7739
35
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
36
(HPO:0001250) Seizures 1245 / 7739
37
(HPO:0001276) Hypertonia 317 / 7739
38
(HPO:0000768) Pectus carinatum 136 / 7739
39
(HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
40
(HPO:0000767) Pectus excavatum 244 / 7739
41
(HPO:0000938) Osteopenia 138 / 7739
42
(HPO:0006114) Multiple palmar creases 3 / 7739
43
(HPO:0002750) Delayed skeletal maturation 250 / 7739
44
(HPO:0001382) Joint hypermobility 231 / 7739
45
(HPO:0001561) Polyhydramnios 191 / 7739
46
(HPO:0002020) Gastroesophageal reflux 101 / 7739
47
(HPO:0001744) Splenomegaly 337 / 7739
48
(HPO:0002013) Vomiting 191 / 7739
49
(HPO:0011968) Feeding difficulties 240 / 7739
50
(HPO:0002019) Constipation 194 / 7739
51
(HPO:0001508) Failure to thrive 454 / 7739
52
(HPO:0001048) Cavernous hemangioma 28 / 7739
53
(HPO:0000962) Hyperkeratosis 216 / 7739
54
(HPO:0008399) Circumungual hyperkeratosis 4 / 7739
55
(HPO:0005595) Generalized hyperkeratosis 14 / 7739
56
(HPO:0008113) Multiple plantar creases 2 / 7739
57
(HPO:0008064) Ichthyosis 108 / 7739
58
(HPO:0002217) Slow-growing hair 22 / 7739
59
(HPO:0007468) Perifollicular hyperkeratosis 4 / 7739
60
(HPO:0001003) Multiple lentigines 11 / 7739
61
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
62
(HPO:0001631) Atria septal defect 274 / 7739
63
(HPO:0001642) Pulmonic stenosis 89 / 7739
64
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
65
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
66
(HPO:0001252) Muscular hypotonia 990 / 7739
67
(HPO:0010547) Muscle flaccidity 466 / 7739
68
(HPO:0001324) Muscle weakness 859 / 7739
69
(HPO:0002120) Cerebral cortical atrophy 187 / 7739
70
(OMIM) Absence of eyelashes 1 / 7739
71
(OMIM) Absence of eyebrows 1 / 7739
72
(OMIM) Dysmotility 3 / 7739
73
(MedDRA:10066295) Keratosis pilaris 11 / 7739
74
(OMIM) Mental retardation, mild to moderate 33 / 7739
75
(HPO:0007333) Hypoplasia of the frontal lobes 5 / 7739
76
(OMIM) Sparse, curly hair 1 / 7739
77
(OMIM) Severe atopic dermatitis 1 / 7739
78
(OMIM) Short upturned nose 6 / 7739
79
(MedDRA:10058668) Clinodactyly 91 / 7739
80
(OMIM) Postnatal short stature 4 / 7739
81
(OMIM) Brain stem atrophy 3 / 7739
82
(OMIM) Posterior crossbite 3 / 7739
83
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum 180 / 7739
84
(OMIM) Convex facial profile 1 / 7739
85
(HPO:0000238) Hydrocephalus 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. ...
Clinical Description OMIM Reynolds et al. (1986) described 4 males and 4 females, each from a different family, with a previously undefined multiple congenital anomalies/mental retardation syndrome, which they designated the cardiofaciocutaneous syndrome. The manifestations included congenital heart defects, characteristic facial ...
Genotype-Phenotype Correlations OMIM Niihori et al. (2006) compared the manifestations of KRAS-positive and BRAF-positive individuals and found similar frequencies of growth and mental retardation, craniofacial appearance, abnormal hair, and heart defects. However, they observed a difference between the 2 groups in ...
Molecular genetics OMIM The phenotypic overlap among CFC syndrome, Noonan syndrome, and Costello syndrome, and the finding of causative mutations for the latter syndromes in the PTPN11 and HRAS (190020) genes, respectively, suggested to Niihori et al. (2006) that the action ...