MCID: FRN033
MIFTS: 21

Frontonasal Dysplasia 2 malady

Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories
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Summaries for Frontonasal Dysplasia 2

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MalaCards based summary: Frontonasal Dysplasia 2, is also known as craniofrontonasal dysplasia with alopecia and hypogonadism, and has symptoms including brachycephaly/flat occiput, scalp/skull defect and bifid skull. An important gene associated with Frontonasal Dysplasia 2 is ALX4 (ALX homeobox 4). Affiliated tissues include testes, bone and cerebellum.

Description from OMIM:46 613451

Aliases & Classifications for Frontonasal Dysplasia 2

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Frontonasal Dysplasia 2, Aliases & Descriptions:

Name: Frontonasal Dysplasia 2 46 62
Craniofrontonasal Dysplasia with Alopecia and Hypogonadism 48
Frontonasal Dysplasia with Alopecia and Genital Abnomality 48
 
Frontonasal Dysplasia with Alopecia and Genital Anomaly 48
Alx4-Related Fndag 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
craniofrontonasal dysplasia with alopecia and hypogonadism:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 613451
ICD10 via Orphanet26 Q87.0

Related Diseases for Frontonasal Dysplasia 2

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Diseases in the Frontonasal Dysplasia 1 family:

Frontonasal Dysplasia frontonasal dysplasia 2
Frontonasal Dysplasia 3

Symptoms for Frontonasal Dysplasia 2

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Symptoms by clinical synopsis from OMIM:

613451

Clinical features from OMIM:

613451

Symptoms:

48 (show all 29)
  • brachycephaly/flat occiput
  • scalp/skull defect
  • bifid skull
  • hypertelorism
  • strabismus/squint
  • nystagmus
  • blepharophimosis/short palpebral fissures
  • telecanthus/canthal dystopy
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • bifid tip/cleft nose/supernumerary nose
  • depressed nasal bridge
  • anteverted nares/nostrils
  • philtrum flat/large/featureless/absent cupidon bows
  • alopecia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • frontal bossing/prominent forehead
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • tooth shape anomaly
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • low set ears/posteriorly rotated ears
  • fine hair
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • corpus callosum/septum pellucidum total/partial agenesis
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • oligoamnios
  • intrauterine growth retardation

HPO human phenotypes related to Frontonasal Dysplasia 2:

(show all 38)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 abnormality of the philtrum hallmark (90%) HP:0000288
3 hypertelorism hallmark (90%) HP:0000316
4 anteverted nares hallmark (90%) HP:0000463
5 strabismus hallmark (90%) HP:0000486
6 telecanthus hallmark (90%) HP:0000506
7 blepharophimosis hallmark (90%) HP:0000581
8 nystagmus hallmark (90%) HP:0000639
9 skull defect hallmark (90%) HP:0001362
10 alopecia hallmark (90%) HP:0001596
11 encephalocele hallmark (90%) HP:0002084
12 midline defect of the nose hallmark (90%) HP:0004122
13 depressed nasal bridge hallmark (90%) HP:0005280
14 aplasia/hypoplasia involving the nose hallmark (90%) HP:0009924
15 cognitive impairment hallmark (90%) HP:0100543
16 scrotal hypoplasia typical (50%) HP:0000046
17 low-set, posteriorly rotated ears typical (50%) HP:0000368
18 intrauterine growth retardation typical (50%) HP:0001511
19 oligohydramnios typical (50%) HP:0001562
20 frontal bossing typical (50%) HP:0002007
21 fine hair typical (50%) HP:0002213
22 abnormality of dental morphology typical (50%) HP:0006482
23 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
24 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
25 aplasia/hypoplasia affecting the eye typical (50%) HP:0008056
26 intellectual disability rare (5%) HP:0001249
27 alopecia rare (5%) HP:0001596
28 hypertelorism HP:0000316
29 wide nasal bridge HP:0000431
30 bifid nasal tip HP:0000456
31 depressed nasal ridge HP:0000457
32 upslanted palpebral fissure HP:0000582
33 cerebellar vermis hypoplasia HP:0001320
34 craniosynostosis HP:0001363
35 hypoplasia of the corpus callosum HP:0002079
36 encephalocele HP:0002084
37 parietal foramina HP:0002697
38 depressed nasal bridge HP:0005280

Drugs & Therapeutics for Frontonasal Dysplasia 2

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Drug clinical trials:

Search ClinicalTrials for Frontonasal Dysplasia 2

Search NIH Clinical Center for Frontonasal Dysplasia 2

Genetic Tests for Frontonasal Dysplasia 2

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Anatomical Context for Frontonasal Dysplasia 2

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MalaCards organs/tissues related to Frontonasal Dysplasia 2:

32
Testes, Bone, Cerebellum, Skin

Animal Models for Frontonasal Dysplasia 2 or affiliated genes

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Publications for Frontonasal Dysplasia 2

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Variations for Frontonasal Dysplasia 2

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Clinvar genetic disease variations for Frontonasal Dysplasia 2:

6
id Gene Name Type Significance SNP ID Assembly Location
1ALX4NM_021926.3(ALX4): c.793C> T (p.Arg265Ter)single nucleotide variantPathogenicrs267606653GRCh37Chr 11, 44289157: 44289157

Expression for genes affiliated with Frontonasal Dysplasia 2

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Expression patterns in normal tissues for genes affiliated with Frontonasal Dysplasia 2

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

Pathways for genes affiliated with Frontonasal Dysplasia 2

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Compounds for genes affiliated with Frontonasal Dysplasia 2

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GO Terms for genes affiliated with Frontonasal Dysplasia 2

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Products for genes affiliated with Frontonasal Dysplasia 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Frontonasal Dysplasia 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet