CARDIOFACIOCUTANEOUS SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: CFC2
Number of Symptoms 16
OrphanetNr:
OMIM Id: 615278
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000337) Broad forehead 21797849 IBIS 116 / 7739
2
(HPO:0000218) High palate 21797849 IBIS 356 / 7739
3
(HPO:0002223) Absent eyebrow 21797849 IBIS 21 / 7739
4
(HPO:0000463) Anteverted nares 305 / 7739
5
(HPO:0000280) Coarse facial features 189 / 7739
6
(HPO:0000545) Myopia 21797849 IBIS 286 / 7739
7
(HPO:0000508) Ptosis 459 / 7739
8
(HPO:0000369) Low-set ears 372 / 7739
9
(HPO:0000358) Posteriorly rotated ears 163 / 7739
10
(HPO:0003477) Peripheral axonal neuropathy 21797849 IBIS 62 / 7739
11
(HPO:0001263) Global developmental delay 21797849 IBIS 853 / 7739
12
(HPO:0008070) Sparse hair 94 / 7739
13
(HPO:0002212) Curly hair 21797849 IBIS 21 / 7739
14
(HPO:0002213) Fine hair 77 / 7739
15
(HPO:0001634) Mitral valve prolapse 21797849 IBIS 69 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 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). In a phenotypic comparison of BRAF (164757)-positive and KRAS-positive individuals with CFC, ...
Clinical Description OMIM Wieczorek et al. (1997) described a female patient (patient 2) with cardiofaciocutaneous syndrome. She was noted to be hypotonic in the first few weeks of life, and early development was complicated by hypertrophic obstructive cardiomyopathy, atrial septal defect, ...
Molecular genetics OMIM Niihori et al. (2006) found the same heterozygous missense mutation in the KRAS gene (D153V; 190070.0010) in patient 2 of Wieczorek et al. (1997) and in another patient. They also identified a different KRAS mutation (G60R; 190070.0009) in ...