Craniofaciofrontodigital syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Syndrome cranio-facio-fronto-digital de Cantu
cantu craniofaciofrontodigital syndrome
Number of Symptoms 50
OrphanetNr: 363705
OMIM Id: 114620
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Cutis laxa
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
 -Rare surgical thoracic disease
Dysostosis with predominant craniofacial involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
2
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
3
 (HPO:0011220) Prominent forehead 137 / 7739
4
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
5
 (HPO:0000470) Short neck 345 / 7739
6
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
7
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
8
 (HPO:0000689) Dental malocclusion 114 / 7739
9
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
10
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
11
 (HPO:0002680) J-shaped sella turcica 15 / 7739
12
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
13
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
14
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
15
 (HPO:0000256) Macrocephaly 298 / 7739
16
 (HPO:0000520) Proptosis 192 / 7739
17
 (HPO:0000316) Hypertelorism 644 / 7739
18
 (HPO:0005280) Depressed nasal bridge 381 / 7739
19
 (HPO:0000666) Horizontal nystagmus 32 / 7739
20
 (HPO:0000540) Hypermetropia 99 / 7739
21
 (HPO:0000369) Low-set ears 372 / 7739
22
 (HPO:0001256) Intellectual disability, mild 141 / 7739
23
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
24
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
25
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
26
 (HPO:0007517) Palmoplantar cutis laxa 9 / 7739
27
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
28
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
29
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
30
 (HPO:0000885) Broad ribs 21 / 7739
31
 (HPO:0001382) Joint hypermobility 231 / 7739
32
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
33
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
34
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
35
 (HPO:0002967) Cubitus valgus 49 / 7739
36
 (HPO:0000767) Pectus excavatum 244 / 7739
37
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
38
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
39
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
40
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
41
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
42
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
43
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
44
 (HPO:0004322) Short stature 1232 / 7739
45
 (HPO:0000973) Cutis laxa 43 / 7739
46
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
47
 (HPO:0001626) Abnormality of the cardiovascular system Very frequent [Orphanet] 73 / 7739
48
 (HPO:0001640) Cardiomegaly 81 / 7739
49
 (HPO:0001627) Abnormal heart morphology 19 / 7739
50
 (HPO:0003745) Sporadic 131 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: