MCID: FRN033
MIFTS: 25

Frontonasal Dysplasia 2

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

Aliases & Classifications for Frontonasal Dysplasia 2

MalaCards integrated aliases for Frontonasal Dysplasia 2:

Name: Frontonasal Dysplasia 2 53 71 28 13 69
Fnd2 53 71
Craniofrontonasal Dysplasia with Alopecia and Hypogonadism 55
Frontonasal Dysplasia with Alopecia and Genital Abnomality 55
Frontonasal Dysplasia with Alopecia and Genital Anomaly 55
Frontonasal Dysplasia Type 2 55
Alx4-Related Fndag 55

Characteristics:

Orphanet epidemiological data:

55
frontonasal dysplasia with alopecia and genital anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

31
frontonasal dysplasia 2:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Frontonasal Dysplasia 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including hypertelorism, depressed nasal bridge and alopecia. An important gene associated with Frontonasal Dysplasia 2 is ALX4 (ALX Homeobox 4). Affiliated tissues include eye, skin and bone.

Description from OMIM: 613451

Related Diseases for Frontonasal Dysplasia 2

Diseases in the Frontonasal Dysplasia 1 family:

Frontonasal Dysplasia 2 Frontonasal Dysplasia 3

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:

53
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:

55 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 Very frequent (99-80%) HP:0000316
2 depressed nasal bridge 55 31 Very frequent (99-80%) HP:0005280
3 alopecia 55 31 occasional (7.5%) Very frequent (99-80%) HP:0001596
4 upslanted palpebral fissure 55 31 Very frequent (99-80%) HP:0000582
5 encephalocele 55 31 Very frequent (99-80%) HP:0002084
6 low-set ears 55 Frequent (79-30%)
7 agenesis of corpus callosum 55 Frequent (79-30%)
8 frontal bossing 55 Frequent (79-30%)
9 nystagmus 55 Very frequent (99-80%)
10 intellectual disability 31 occasional (7.5%) HP:0001249
11 abnormality of the dentition 55 Frequent (79-30%)
12 wide nasal bridge 31 HP:0000431
13 microcephaly 31 HP:0000252
14 anteverted nares 55 Very frequent (99-80%)
15 intellectual disability, mild 55 Very frequent (99-80%)
16 brachycephaly 55 Very frequent (99-80%)
17 strabismus 55 Very frequent (99-80%)
18 cryptorchidism 55 Very frequent (99-80%)
19 hypohidrosis 31 occasional (7.5%) HP:0000966
20 intrauterine growth retardation 55 Frequent (79-30%)
21 hypogonadism 55 Very frequent (99-80%)
22 underdeveloped nasal alae 55 Very frequent (99-80%)
23 telecanthus 55 Very frequent (99-80%)
24 decreased lacrimation 31 occasional (7.5%) HP:0000633
25 intellectual disability, moderate 55 Very frequent (99-80%)
26 depressed nasal ridge 31 HP:0000457
27 microphthalmia 55 Frequent (79-30%)
28 coronal craniosynostosis 55 Very frequent (99-80%)
29 fine hair 55 Frequent (79-30%)
30 craniosynostosis 31 HP:0001363
31 oligohydramnios 55 Frequent (79-30%)
32 scrotal hypoplasia 55 Frequent (79-30%)
33 broad philtrum 55 Very frequent (99-80%)
34 skull defect 55 Very frequent (99-80%)
35 hypoplasia of the corpus callosum 31 HP:0002079
36 cerebellar vermis hypoplasia 31 HP:0001320
37 sparse eyelashes 31 HP:0000653
38 short palpebral fissure 31 HP:0012745
39 conical tooth 55 Frequent (79-30%)
40 bifid nose 55 Very frequent (99-80%)
41 bifid nasal tip 31 HP:0000456
42 agenesis of cerebellar vermis 55 Frequent (79-30%)
43 parietal foramina 31 HP:0002697
44 sparse and thin eyebrow 31 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 28 ALX4

Anatomical Context for Frontonasal Dysplasia 2

MalaCards organs/tissues related to Frontonasal Dysplasia 2:

38
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.673C> G (p.Gln225Glu) single nucleotide variant Pathogenic rs587777701 GRCh38 Chromosome 11, 44275452: 44275452
2 ALX4 NM_021926.3(ALX4): c.503delC (p.Pro168Leufs) deletion Pathogenic rs876657391 GRCh38 Chromosome 11, 44275622: 44275622
3 ALX4 NM_021926.3(ALX4): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs267606653 GRCh37 Chromosome 11, 44289157: 44289157
4 ALX4 NM_021926.3(ALX4): c.291delG (p.Gln98Serfs) deletion Pathogenic rs869320717 GRCh38 Chromosome 11, 44309772: 44309772

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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