Craniofrontonasal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: CRANIOFRONTONASAL DYSOSTOSIS
CRANIOFRONTONASAL DYSPLASIA
CFNS
CFND
Craniofrontonasal syndrome
Number of Symptoms 89
OrphanetNr: 1520
OMIM Id: 304110
ICD-10: Q87.1
UMLs: C0220767
MeSH: C536456
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acrofacial dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Frontonasal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000049) Shawl scrotum Occasional [Orphanet] 31 / 7739
4
 (HPO:0000506) Telecanthus 156 / 7739
5
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
6
 (HPO:0000456) Bifid nasal tip 11 / 7739
7
 (HPO:0000470) Short neck 345 / 7739
8
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
9
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
12
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
13
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
14
 (HPO:0000324) Facial asymmetry 57 / 7739
15
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
16
 (HPO:0002162) Low posterior hairline Frequent [Orphanet] 88 / 7739
17
 (HPO:0000349) Widow's peak Frequent [Orphanet] 26 / 7739
18
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
19
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
20
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
21
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
22
 (HPO:0000431) Wide nasal bridge 290 / 7739
23
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
24
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
25
 (HPO:0005278) Hypoplastic nasal tip 1 / 7739
26
 (HPO:0000204) Cleft upper lip 193 / 7739
27
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
28
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
29
 (HPO:0005989) Redundant neck skin Frequent [Orphanet] 40 / 7739
30
 (HPO:0000929) Abnormality of the skull 53 / 7739
31
 (HPO:0000577) Exotropia 43 / 7739
32
 (HPO:0000639) Nystagmus 555 / 7739
33
 (HPO:0000486) Strabismus 576 / 7739
34
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
35
 (HPO:0001263) Global developmental delay 853 / 7739
36
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Occasional [Orphanet] 28 / 7739
37
 (HPO:0001770) Toe syndactyly 149 / 7739
38
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
39
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
40
 (HPO:0200053) Hemihypotrophy of lower limb 2 / 7739
41
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
42
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
43
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
44
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
45
 (HPO:0009700) Finger symphalangism 55 / 7739
46
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
47
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
48
 (HPO:0001161) Hand polydactyly Frequent [Orphanet] 71 / 7739
49
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
50
 (HPO:0006585) Congenital pseudoarthrosis of the clavicle 4 / 7739
51
 (HPO:0001852) Sandal gap Frequent [Orphanet] 63 / 7739
52
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
53
 (HPO:0200021) Down-sloping shoulders 18 / 7739
54
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
55
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
56
 (HPO:0001388) Joint laxity 117 / 7739
57
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
58
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
59
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
60
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
61
 (HPO:0001060) Axillary pterygia 4 / 7739
62
 (HPO:0001159) Syndactyly 140 / 7739
63
 (HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
64
 (HPO:0001537) Umbilical hernia 206 / 7739
65
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
66
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
67
 (HPO:0004322) Short stature 1232 / 7739
68
 (HPO:0001808) Fragile nails 21 / 7739
69
 (HPO:0001809) Split nail 2 / 7739
70
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
71
 (HPO:0001807) Ridged nail 20 / 7739
72
 (HPO:0002224) Woolly hair Frequent [Orphanet] 26 / 7739
73
 (HPO:0010719) Abnormality of hair texture Frequent [Orphanet] 24 / 7739
74
 (HPO:0010547) Muscle flaccidity 466 / 7739
75
 (HPO:0001324) Muscle weakness 859 / 7739
76
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
77
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
78
 (OMIM) Broad halluces 12 / 7739
79
 (HPO:0012813) Unilateral breast hypoplasia 2 / 7739
80
 (OMIM) Normal intelligence 81 / 7739
81
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
82
 (MedDRA:10072883) Brachydactyly 153 / 7739
83
 (OMIM) Thick, wiry hair (females) 1 / 7739
84
 (OMIM) Increased interorbital distance (males) 1 / 7739
85
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
86
 (OMIM) Unilateral breast hypoplasia 1 / 7739
87
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
88
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
89
 (OMIM) Longitudinal splitting 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic ...
Clinical Description OMIM Cohen (1979) identified CFNS as a subgroup of frontonasal dysplasia. CFNS is characterized in females by hypertelorism, coronal craniosynostosis, craniofacial asymmetry, frontal bossing, downslanting palpebral fissures, clefting of the nasal tip, longitudinally grooved fingernails, and other digital anomalies ...
Molecular genetics OMIM In affected members of 3 unrelated families with CFNS, Wieland et al. (2004) identified mutations in the EFNB1 gene (300035.0001-300035.0003).

In 24 affected females from 20 unrelated families with CFNS, Twigg et al. (2004) identified 17 ...