Cardiospondylocarpofacial syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CARDIOSPONDYLOCARPOFACIAL SYNDROME
CSCF
Mitral regurgitation - deafness - skeletal anomalies
Forney syndrome
Forney-Robinson-Pascoe syndrome
Number of Symptoms 19
OrphanetNr: 3238
OMIM Id: 157800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
2
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
3
 (HPO:0000478) Abnormality of the eye 126 / 7739
4
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
5
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
6
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
7
 (HPO:0002949) Fused cervical vertebrae 13 / 7739
8
 (HPO:0100266) Synostosis of carpals/tarsals 4 / 7739
9
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
10
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0001480) Freckling 13 / 7739
13
 (HPO:0001633) Abnormality of the mitral valve Very frequent [Orphanet] 69 / 7739
14
 (HPO:0001653) Mitral regurgitation 64 / 7739
15
 (OMIM) Stapes footplate fixation 1 / 7739
16
 (OMIM) Iris freckling 1 / 7739
17
 (OMIM) Facial freckling 1 / 7739
18
 (OMIM) Congenital mitral regurgitation 1 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a mother and 2 daughters, Forney et al. (1966) observed congenital mitral regurgitation, congenital perceptive deafness due to stapes footplate fixation, fusion of cervical vertebrae and of carpal and tarsal bones, striking freckling of the face and ...
Molecular genetics OMIM By molecular sequence analysis, Sousa et al. (2010) excluded mutation in the NOG gene (602991) in 1 of their patients and in the FLNB gene (603381) in the other.