FND3
MCID: FRN032
MIFTS: 28

Frontonasal Dysplasia 3 (FND3)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Frontonasal Dysplasia 3

MalaCards integrated aliases for Frontonasal Dysplasia 3:

Name: Frontonasal Dysplasia 3 56 52 73 29 13 6 71
Fnd3 56 52 73
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome 52 58
Alx1-Related Frontonasal Dysplasia 52 58
Frontonasal Dysplasia Type 3 52 58
Dysplasia, Frontonasal, Type 3 39

Characteristics:

Orphanet epidemiological data:

58
frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
variable expressivity

Inheritance:
autosomal recessive


HPO:

31
frontonasal dysplasia 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Frontonasal Dysplasia 3

UniProtKB/Swiss-Prot : 73 Frontonasal dysplasia 3: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.

MalaCards based summary : Frontonasal Dysplasia 3, also known as fnd3, is related to frontonasal dysplasia 1 and hypertelorism. An important gene associated with Frontonasal Dysplasia 3 is ALX1 (ALX Homeobox 1). Affiliated tissues include eye, bone and skin, and related phenotypes are cataract and hypertelorism

More information from OMIM: 613456 PS136760

Related Diseases for Frontonasal Dysplasia 3

Diseases in the Frontonasal Dysplasia 1 family:

Frontonasal Dysplasia 2 Frontonasal Dysplasia 3
Six2-Related Frontonasal Dysplasia

Diseases related to Frontonasal Dysplasia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 1 10.4
2 hypertelorism 10.4
3 microphthalmia 10.4

Symptoms & Phenotypes for Frontonasal Dysplasia 3

Human phenotypes related to Frontonasal Dysplasia 3:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
4 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
5 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
6 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
7 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
8 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
9 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
10 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
11 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
12 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
13 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
14 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
15 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
16 facial cleft 58 31 frequent (33%) Frequent (79-30%) HP:0002006
17 sparse eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045075
18 sparse eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000653
19 widow's peak 58 31 frequent (33%) Frequent (79-30%) HP:0000349
20 bifid nose 58 31 frequent (33%) Frequent (79-30%) HP:0011803
21 finger clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0040019
22 pectoral muscle hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0005258
23 hypoplasia of the frontal bone 58 31 frequent (33%) Frequent (79-30%) HP:0005466
24 aplasia/hypoplasia of the frontal sinuses 58 31 frequent (33%) Frequent (79-30%) HP:0009119
25 eyelid coloboma 31 frequent (33%) HP:0000625
26 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
27 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
28 lipoma of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006931
29 cranium bifidum occultum 58 31 occasional (7.5%) Occasional (29-5%) HP:0004423
30 brachycephaly 31 HP:0000248
31 cleft eyelid 58 Frequent (79-30%)
32 absent eyebrow 31 HP:0002223
33 upper eyelid coloboma 31 HP:0000636
34 prominent glabella 31 HP:0002057

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
ptosis
microphthalmia
telecanthus
more
Head And Neck Nose:
anteverted nares
broad columella
bifid nasal tip
hypoplastic alae nasi
broad nasal root
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Teeth:
protruding teeth

Head And Neck Face:
smooth philtrum
prominent glabella

Head And Neck Mouth:
cleft palate
cleft lip
absent cupid's bow

Skeletal Skull:
cranium bifidum

Neurologic Central Nervous System:
delayed myelinization
thin corpus callosum, asymmetric cerebellar vermis

Clinical features from OMIM:

613456

Drugs & Therapeutics for Frontonasal Dysplasia 3

Search Clinical Trials , NIH Clinical Center for Frontonasal Dysplasia 3

Genetic Tests for Frontonasal Dysplasia 3

Genetic tests related to Frontonasal Dysplasia 3:

# Genetic test Affiliating Genes
1 Frontonasal Dysplasia 3 29 ALX1

Anatomical Context for Frontonasal Dysplasia 3

MalaCards organs/tissues related to Frontonasal Dysplasia 3:

40
Eye, Bone, Skin

Publications for Frontonasal Dysplasia 3

Articles related to Frontonasal Dysplasia 3:

# Title Authors PMID Year
1
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia. 6 56
27324866 2017
2
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. 56 6
20451171 2010
3
Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. 61
26610632 2016
4
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. 61
24376213 2014

Variations for Frontonasal Dysplasia 3

ClinVar genetic disease variations for Frontonasal Dysplasia 3:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALX1 NM_006982.3(ALX1):c.661-1G>CSNV Pathogenic 827658 12:85694932-85694932 12:85301154-85301154
2 ALX1 NM_006982.3(ALX1):c.531+1G>ASNV Pathogenic 8111 rs587776684 12:85677655-85677655 12:85283877-85283877
3 ALX1 NM_006982.3(ALX1):c.191G>T (p.Arg64Leu)SNV Benign/Likely benign 287469 rs115596276 12:85674230-85674230 12:85280452-85280452

Expression for Frontonasal Dysplasia 3

Search GEO for disease gene expression data for Frontonasal Dysplasia 3.

Pathways for Frontonasal Dysplasia 3

GO Terms for Frontonasal Dysplasia 3

Sources for Frontonasal Dysplasia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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