MCID: FRN033
MIFTS: 15

Frontonasal Dysplasia 2 malady

Bone, Skin, Fetal categories

Summaries for Frontonasal Dysplasia 2

Sources:
47OMIM, 33MalaCards
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MalaCards: 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).

Description from OMIM:47 613451

Aliases & Classifications for Frontonasal Dysplasia 2

Sources:
47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Skin


Characteristics (Orphanet epidemiological data):

49
craniofrontonasal dysplasia with alopecia and hypogonadism:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

frontonasal dysplasia 2 47 61
craniofrontonasal dysplasia with alopecia and hypogonadism 49
frontonasal dysplasia with alopecia and genital abnomality 49
frontonasal dysplasia with alopecia and genital anomaly 49
alx4-related fndag 49


External Ids:

OMIM47 613451
ICD10 via Orphanet26 Q87.0

Related Diseases for Frontonasal Dysplasia 2

Diseases in the frontonasal dysplasia 1 family:

frontonasal dysplasia frontonasal dysplasia 2
frontonasal dysplasia 3

Clinical Features for Frontonasal Dysplasia 2

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

613451

Symptoms:

49 (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

Drugs & Therapeutics for Frontonasal Dysplasia 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Frontonasal Dysplasia 2

Drug clinical trials:

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Search NIH Clinical Center for Frontonasal Dysplasia 2

Search CenterWatch for Frontonasal Dysplasia 2

Genetic Tests for Frontonasal Dysplasia 2

Anatomical Context for Frontonasal Dysplasia 2

Animal Models for Frontonasal Dysplasia 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Frontonasal Dysplasia 2

Sources:
51PubMed
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Articles related to Frontonasal Dysplasia 2:

idTitleAuthorsYear
1
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. (22628242)
2012

Genetic Variations for Frontonasal Dysplasia 2

Expression for genes affiliated with Frontonasal Dysplasia 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Frontonasal Dysplasia 2

GO Terms for genes affiliated with Frontonasal Dysplasia 2

Products for genes affiliated with Frontonasal Dysplasia 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Frontonasal Dysplasia 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet