MCID: FRN033
MIFTS: 22

Frontonasal Dysplasia 2 malady

Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories

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 cryptorchidism, abnormality of the philtrum and hypertelorism. 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, 61UMLS, 48Orphanet, 27ICD10 via Orphanet
See all sources

Frontonasal Dysplasia 2, Aliases & Descriptions:

Name: Frontonasal Dysplasia 2 46 61
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 Orphanet27 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:

7
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Frontonasal Dysplasia 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet