Frontonasal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: MEDIAN FACIAL CLEFT SYNDROME
FRONTONASAL DYSPLASIA
FRONTORHINY
FRONTONASAL MALFORMATION
FND1
FND
FNM
Median cleft syndrome
Number of Symptoms 61
OrphanetNr: 250
OMIM Id: 136760
ICD-10: Q75.8
UMLs:
MeSH: C538065
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant craniofacial involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000455) Broad nasal tip 67 / 7739
3
 (HPO:0000456) Bifid nasal tip 11 / 7739
4
 (HPO:0000286) Epicanthus 371 / 7739
5
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
6
 (HPO:0009099) Median cleft palate 3 / 7739
7
 (HPO:0002000) Short columella 11 / 7739
8
 (HPO:0001566) Widely-spaced maxillary central incisors 15 / 7739
9
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
10
 (HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
11
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
12
 (HPO:0006992) Anterior basal encephalocele 1 / 7739
13
 (HPO:0000568) Microphthalmia 183 / 7739
14
 (HPO:0004423) Cranium bifidum occultum 3 / 7739
15
 (HPO:0000349) Widow's peak 26 / 7739
16
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
17
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
18
 (HPO:0000161) Median cleft lip Frequent [Orphanet] 27 / 7739
19
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
20
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
21
 (HPO:0000431) Wide nasal bridge 290 / 7739
22
 (HPO:0002738) Hypoplastic frontal sinuses 6 / 7739
23
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
24
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
25
 (HPO:0000589) Coloboma 47 / 7739
26
 (HPO:0000508) Ptosis 459 / 7739
27
 (HPO:0000518) Cataract 454 / 7739
28
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
29
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
30
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
31
 (HPO:0000369) Low-set ears 372 / 7739
32
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
33
 (HPO:0001249) Intellectual disability 1089 / 7739
34
 (HPO:0006931) Lipoma of corpus callosum 1 / 7739
35
 (HPO:0012385) Camptodactyly 113 / 7739
36
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
37
 (HPO:0009473) Joint contracture of the hand 84 / 7739
38
 (HPO:0009466) Radial deviation of finger 101 / 7739
39
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
40
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
41
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
42
 (HPO:0005258) Pectoral muscle hypoplasia/aplasia 1 / 7739
43
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
44
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
45
 (HPO:0007541) Frontal cutaneous lipoma 2 / 7739
46
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
47
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
48
 (MedDRA:10072883) Brachydactyly 153 / 7739
49
 (MedDRA:10058668) Clinodactyly 91 / 7739
50
 (HPO:0003745) Sporadic 131 / 7739
51
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
52
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
53
 (OMIM) Broad notched nasal tip 1 / 7739
54
 (HPO:0030084) Clinodactyly 90 / 7739
55
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
56
 (OMIM) Notched alae nasi 1 / 7739
57
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
58
 (OMIM) Accessory nasal tag 1 / 7739
59
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
60
 (OMIM) Variable bifid nose 1 / 7739
61
 (OMIM) Lateral displacement of inner canthi 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; ...
Clinical Description OMIM Twigg et al. (2009) described a particular form of frontonasal dysplasia, which they called frontorhiny, characterized by distinctive facial appearance with hypertelorism, wide nasal bridge, short nasal ridge, splayed nasal bones with bifid nasal tip, broad columella that ...
Molecular genetics OMIM Assuming recessive inheritance, Twigg et al. (2009) mapped the locus in 3 families with frontorhiny to chromosome 1 and identified mutations in the ALX3 gene (606014) on chromosome 1p13.3. Twigg et al. (2009) identified a total of 7 ...