MCID: FRN023
MIFTS: 39

Frontonasal Dysplasia malady

Bone diseases, Fetal diseases categories

Summaries for Frontonasal Dysplasia

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Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. in some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. in addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. the majority of affected individuals have normal intelligence. the exact cause of frontonasal dysplasia is not known. most cases occur randomly, for no apparent reason (sporadically). however, some cases are thought to run in families. researchers have suggested that this condition is caused by mutations in the alx3 gene and is inherited in an autosomal recessive fashion. last updated: 1/9/2012

MalaCards: Frontonasal Dysplasia, also known as median facial cleft syndrome, is related to polydactyly and frontonasal dysplasia 1, and has symptoms including congenital cardiac anomaly/malformation/cardiopathy, undescended/ectopic testes/cryptorchidia/unfixed testes and encephalocele/exencephaly. An important gene associated with Frontonasal Dysplasia is ALX4 (ALX homeobox 4). Affiliated tissues include eye, skin and brain, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia:63 Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis,... more...

Aliases & Classifications for Frontonasal Dysplasia

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Sources:
42NIH Rare Diseases, 22GTR, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
frontonasal dysplasia:
Inheritance: Sporadic; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

frontonasal dysplasia 42 22 48 60
median facial cleft syndrome 42
median cleft syndrome 48
frontorhiny 42


External Ids:

MESH via Orphanet35 C538065
ICD10 via Orphanet26 Q75.8
SNOMED-CT via Orphanet57 254004006

Related Diseases for Frontonasal Dysplasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Frontonasal Dysplasia:



Diseases related to frontonasal dysplasia

Clinical Features for Frontonasal Dysplasia

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Sources:
48Orphanet
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Symptoms:

48 (show all 23)
  • congenital cardiac anomaly/malformation/cardiopathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • encephalocele/exencephaly
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • clinodactyly of fifth finger
  • camptodactyly of fingers
  • broad nose/nasal bridge
  • bifid tip/cleft nose/supernumerary nose
  • median cleft lip
  • craniostenosis/craniosynostosis/sutural synostosis
  • brachycephaly/flat occiput
  • choanal atresia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • preauricular/branchial tags/appendages
  • conductive deafness/hearing loss
  • webbed neck/pterygium colli
  • simian crease/transverse/unique palmar crease
  • hypertelorism

Drugs & Therapeutics for Frontonasal Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Frontonasal Dysplasia

Drug clinical trials:

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Search NIH Clinical Center for Frontonasal Dysplasia

Search CenterWatch for Frontonasal Dysplasia

Genetic Tests for Frontonasal Dysplasia

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22GTR
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Genetic tests related to Frontonasal Dysplasia:

id Genetic test Affiliating Genes
1 Frontonasal Dysplasia22

Anatomical Context for Frontonasal Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Frontonasal Dysplasia:

32
Eye, Skin, Brain, Testes, Bone

Animal Models for Frontonasal Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Frontonasal Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6ALX3, ALX4, ALX1
2MP:00053828.6ALX1, ALX4, ALX3
3MP:00053888.5ALX3, ALX4, ALX1
4MP:00053908.5ALX3, ALX4, ALX1
5MP:00053818.4ALX1, ALX4, ALX3
6MP:00053918.2ALX3, ALX4, ALX1

Publications for Frontonasal Dysplasia

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Genetic Variations for Frontonasal Dysplasia

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Expression for genes affiliated with Frontonasal Dysplasia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Frontonasal Dysplasia

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Pathways for genes affiliated with Frontonasal Dysplasia

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Compounds for genes affiliated with Frontonasal Dysplasia

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GO Terms for genes affiliated with Frontonasal Dysplasia

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16Gene Ontology
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Cellular components related to Frontonasal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.1ALX4, ALX1

Biological processes related to Frontonasal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1embryonic hindlimb morphogenesisGO:0351169.4ALX3, ALX4
2embryonic forelimb morphogenesisGO:0351159.3ALX4, ALX3
3regulation of apoptotic processGO:0429819.3ALX3, ALX4
4palate developmentGO:0600219.0ALX4, ALX1
5anterior/posterior pattern specificationGO:0099528.8ALX4, ALX1
6embryonic skeletal system morphogenesisGO:0487048.6ALX3, ALX4, ALX1

Molecular functions related to Frontonasal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.1ALX4, ALX1
2sequence-specific DNA bindingGO:0435658.4ALX3, ALX4, ALX1
3sequence-specific DNA binding transcription factor activityGO:0037008.2ALX3, ALX4, ALX1

Products for genes affiliated with Frontonasal Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Frontonasal Dysplasia

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet