MCID: FRN033
MIFTS: 25

Frontonasal Dysplasia 2

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Frontonasal Dysplasia 2

MalaCards integrated aliases for Frontonasal Dysplasia 2:

Name: Frontonasal Dysplasia 2 57 75 29 13 6 73
Fnd2 57 75
Craniofrontonasal Dysplasia with Alopecia and Hypogonadism 59
Frontonasal Dysplasia with Alopecia and Genital Abnomality 59
Frontonasal Dysplasia with Alopecia and Genital Anomaly 59
Dysplasia, Frontonasal, Type 2 40
Frontonasal Dysplasia Type 2 59
Alx4-Related Fndag 59

Characteristics:

Orphanet epidemiological data:

59
frontonasal dysplasia with alopecia and genital anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

32
frontonasal dysplasia 2:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Frontonasal Dysplasia 2

UniProtKB/Swiss-Prot : 75 Frontonasal dysplasia 2: 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 2, also known as fnd2, is related to frontonasal dysplasia with alopecia and genital anomaly and frontonasal dysplasia 1. An important gene associated with Frontonasal Dysplasia 2 is ALX4 (ALX Homeobox 4). Affiliated tissues include eye, skin and bone, and related phenotypes are hypertelorism and depressed nasal bridge

Description from OMIM: 613451

Related Diseases for Frontonasal Dysplasia 2

Diseases in the Frontonasal Dysplasia 2 family:

Frontonasal Dysplasia 1 Frontonasal Dysplasia 3
Six2-Related Frontonasal Dysplasia

Diseases related to Frontonasal Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia with alopecia and genital anomaly 12.4
2 frontonasal dysplasia 1 11.1

Symptoms & Phenotypes for Frontonasal Dysplasia 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
short palpebral fissures
upslanting palpebral fissures
decreased lacrimation (1 patient)

Skeletal Skull:
craniosynostosis
parietal foramina
cranium bifidum

Neurologic Central Nervous System:
hypoplasia of the corpus callosum
cerebellar vermis hypoplasia
intellectual disability (in some patients)
aplasia of the corpus callosum

Skin Nails Hair Skin:
decreased sweating (1 patient)

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
depressed nasal ridge
bifid nasal tip
wide nasal tip
more
Skin Nails Hair Hair:
sparse hair
sparse eyelashes
sparse eyebrows
alopecia (in some patients)

Head And Neck Head:
small head


Clinical features from OMIM:

613451

Human phenotypes related to Frontonasal Dysplasia 2:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 Very frequent (99-80%) HP:0000316
2 depressed nasal bridge 59 32 Very frequent (99-80%) HP:0005280
3 alopecia 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001596
4 upslanted palpebral fissure 59 32 Very frequent (99-80%) HP:0000582
5 encephalocele 59 32 Very frequent (99-80%) HP:0002084
6 low-set ears 59 Frequent (79-30%)
7 agenesis of corpus callosum 59 Frequent (79-30%)
8 frontal bossing 59 Frequent (79-30%)
9 nystagmus 59 Very frequent (99-80%)
10 intellectual disability 32 occasional (7.5%) HP:0001249
11 abnormality of the dentition 59 Frequent (79-30%)
12 wide nasal bridge 32 HP:0000431
13 microcephaly 32 HP:0000252
14 anteverted nares 59 Very frequent (99-80%)
15 intellectual disability, mild 59 Very frequent (99-80%)
16 brachycephaly 59 Very frequent (99-80%)
17 strabismus 59 Very frequent (99-80%)
18 cryptorchidism 59 Very frequent (99-80%)
19 hypohidrosis 32 occasional (7.5%) HP:0000966
20 intrauterine growth retardation 59 Frequent (79-30%)
21 hypogonadism 59 Very frequent (99-80%)
22 underdeveloped nasal alae 59 Very frequent (99-80%)
23 telecanthus 59 Very frequent (99-80%)
24 decreased lacrimation 32 occasional (7.5%) HP:0000633
25 intellectual disability, moderate 59 Very frequent (99-80%)
26 depressed nasal ridge 32 HP:0000457
27 microphthalmia 59 Frequent (79-30%)
28 coronal craniosynostosis 59 Very frequent (99-80%)
29 fine hair 59 Frequent (79-30%)
30 craniosynostosis 32 HP:0001363
31 oligohydramnios 59 Frequent (79-30%)
32 hypoplasia of the corpus callosum 32 HP:0002079
33 scrotal hypoplasia 59 Frequent (79-30%)
34 broad philtrum 59 Very frequent (99-80%)
35 skull defect 59 Very frequent (99-80%)
36 cerebellar vermis hypoplasia 32 HP:0001320
37 sparse eyelashes 32 HP:0000653
38 short palpebral fissure 32 HP:0012745
39 conical tooth 59 Frequent (79-30%)
40 bifid nose 59 Very frequent (99-80%)
41 bifid nasal tip 32 HP:0000456
42 agenesis of cerebellar vermis 59 Frequent (79-30%)
43 parietal foramina 32 HP:0002697
44 sparse and thin eyebrow 32 HP:0000535

Drugs & Therapeutics for Frontonasal Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Frontonasal Dysplasia 2

Genetic Tests for Frontonasal Dysplasia 2

Genetic tests related to Frontonasal Dysplasia 2:

# Genetic test Affiliating Genes
1 Frontonasal Dysplasia 2 29 ALX4

Anatomical Context for Frontonasal Dysplasia 2

MalaCards organs/tissues related to Frontonasal Dysplasia 2:

41
Eye, Skin, Bone

Publications for Frontonasal Dysplasia 2

Variations for Frontonasal Dysplasia 2

ClinVar genetic disease variations for Frontonasal Dysplasia 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALX4 NM_021926.3(ALX4): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs267606653 GRCh37 Chromosome 11, 44289157: 44289157
2 ALX4 NM_021926.3(ALX4): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs267606653 GRCh38 Chromosome 11, 44267607: 44267607
3 ALX4 NM_021926.3(ALX4): c.673C> G (p.Gln225Glu) single nucleotide variant Pathogenic rs587777701 GRCh38 Chromosome 11, 44275452: 44275452
4 ALX4 NM_021926.3(ALX4): c.673C> G (p.Gln225Glu) single nucleotide variant Pathogenic rs587777701 GRCh37 Chromosome 11, 44297002: 44297002
5 ALX4 NM_021926.3(ALX4): c.503delC (p.Pro168Leufs) deletion Pathogenic rs876657391 GRCh38 Chromosome 11, 44275622: 44275622
6 ALX4 NM_021926.3(ALX4): c.503delC (p.Pro168Leufs) deletion Pathogenic rs876657391 GRCh37 Chromosome 11, 44297172: 44297172
7 ALX4 NM_021926.3(ALX4): c.291delG (p.Gln98Serfs) deletion Pathogenic rs869320717 GRCh38 Chromosome 11, 44309772: 44309772
8 ALX4 NM_021926.3(ALX4): c.291delG (p.Gln98Serfs) deletion Pathogenic rs869320717 GRCh37 Chromosome 11, 44331322: 44331322
9 ALX4 NM_021926.3(ALX4): c.976G> A (p.Asp326Asn) single nucleotide variant Uncertain significance rs186244229 GRCh38 Chromosome 11, 44265114: 44265114
10 ALX4 NM_021926.3(ALX4): c.976G> A (p.Asp326Asn) single nucleotide variant Uncertain significance rs186244229 GRCh37 Chromosome 11, 44286664: 44286664

Expression for Frontonasal Dysplasia 2

Search GEO for disease gene expression data for Frontonasal Dysplasia 2.

Pathways for Frontonasal Dysplasia 2

GO Terms for Frontonasal Dysplasia 2

Sources for Frontonasal Dysplasia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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