MCID: FRN033
MIFTS: 26

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 54 24 71 29 13 69
Fnd2 24 71
Craniofrontonasal Dysplasia with Alopecia and Hypogonadism 56
Frontonasal Dysplasia with Alopecia and Genital Abnomality 56
Frontonasal Dysplasia with Alopecia and Genital Anomaly 56
Alx4-Related Fndag 56

Characteristics:

Orphanet epidemiological data:

56
frontonasal dysplasia with alopecia and genital anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 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 has symptoms including depressed nasal bridge, hypertelorism and alopecia. An important gene associated with Frontonasal Dysplasia 2 is ALX4 (ALX Homeobox 4). Affiliated tissues include eye, bone and skin.

Description from OMIM: 613451

Related Diseases for Frontonasal Dysplasia 2

Diseases in the Frontonasal Dysplasia 1 family:

Frontonasal Dysplasia 2 Frontonasal Dysplasia 3
Six2-Related Frontonasal Dysplasia

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

id Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia with alopecia and genital anomaly 12.3

Symptoms & Phenotypes for Frontonasal Dysplasia 2

Symptoms via clinical synopsis from OMIM:

54

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

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

Skeletal- Skull:
craniosynostosis
cranium bifidum
parietal foramina

Skin Nails & Hair- Skin:
decreased sweating (1 patient)

Head And Neck- Nose:
depressed nasal bridge
wide nasal bridge
bifid nasal tip
wide nasal tip
depressed nasal ridge
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:

56 32 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
2 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
3 alopecia 56 32 occasional (7.5%) Very frequent (99-80%) HP:0001596
4 encephalocele 56 32 Very frequent (99-80%) HP:0002084
5 upslanted palpebral fissure 56 32 Very frequent (99-80%) HP:0000582
6 nystagmus 56 Very frequent (99-80%)
7 strabismus 56 Very frequent (99-80%)
8 microcephaly 32 HP:0000252
9 low-set ears 56 Frequent (79-30%)
10 intrauterine growth retardation 56 Frequent (79-30%)
11 microphthalmia 56 Frequent (79-30%)
12 frontal bossing 56 Frequent (79-30%)
13 anteverted nares 56 Very frequent (99-80%)
14 cryptorchidism 56 Very frequent (99-80%)
15 telecanthus 56 Very frequent (99-80%)
16 intellectual disability 32 occasional (7.5%) HP:0001249
17 hypoplasia of the corpus callosum 32 HP:0002079
18 agenesis of corpus callosum 56 Frequent (79-30%)
19 intellectual disability, mild 56 Very frequent (99-80%)
20 wide nasal bridge 32 HP:0000431
21 brachycephaly 56 Very frequent (99-80%)
22 hypogonadism 56 Very frequent (99-80%)
23 oligohydramnios 56 Frequent (79-30%)
24 scrotal hypoplasia 56 Frequent (79-30%)
25 sparse eyelashes 32 HP:0000653
26 broad philtrum 56 Very frequent (99-80%)
27 craniosynostosis 32 HP:0001363
28 fine hair 56 Frequent (79-30%)
29 hypohidrosis 32 occasional (7.5%) HP:0000966
30 cerebellar vermis hypoplasia 32 HP:0001320
31 agenesis of cerebellar vermis 56 Frequent (79-30%)
32 coronal craniosynostosis 56 Very frequent (99-80%)
33 decreased lacrimation 32 occasional (7.5%) HP:0000633
34 bifid nose 56 Very frequent (99-80%)
35 intellectual disability, moderate 56 Very frequent (99-80%)
36 parietal foramina 32 HP:0002697
37 bifid nasal tip 32 HP:0000456
38 depressed nasal ridge 32 HP:0000457
39 short palpebral fissure 32 HP:0012745
40 abnormality of the teeth 56 Frequent (79-30%)
41 underdeveloped nasal alae 56 Very frequent (99-80%)
42 skull defect 56 Very frequent (99-80%)
43 conical tooth 56 Frequent (79-30%)
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:

id Genetic test Affiliating Genes
1 Frontonasal Dysplasia 2 29 24 ALX4

Anatomical Context for Frontonasal Dysplasia 2

MalaCards organs/tissues related to Frontonasal Dysplasia 2:

39
Eye, Bone, Skin

Publications for Frontonasal Dysplasia 2

Variations for Frontonasal Dysplasia 2

ClinVar genetic disease variations for Frontonasal Dysplasia 2:

6
id 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.673C> G (p.Gln225Glu) single nucleotide variant Pathogenic rs587777701 GRCh38 Chromosome 11, 44275452: 44275452
3 ALX4 NM_021926.3(ALX4): c.503delC (p.Pro168Leufs) deletion Pathogenic rs876657391 GRCh38 Chromosome 11, 44275622: 44275622
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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