MCID: FRN023
MIFTS: 34

Frontonasal Dysplasia malady

Summaries for Frontonasal Dysplasia

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43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 acromelic. An important gene associated with Frontonasal Dysplasia is ALX4 (ALX homeobox 4). Affiliated tissues include brain, heart and kidney, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia:64 Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis,... more...

Aliases & Classifications for Frontonasal Dysplasia

Sources:
43NIH Rare Diseases, 22GTR, 61UMLS
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Aliases & Descriptions:

frontonasal dysplasia 43 22 61
median facial cleft syndrome 43
frontorhiny 43


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

Drugs & Therapeutics for Frontonasal Dysplasia

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

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Drug clinical trials:

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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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33MalaCards
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MalaCards organs/tissues related to Frontonasal Dysplasia:

33
Brain, Heart, Kidney, Skin

Animal Models for Frontonasal Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Frontonasal Dysplasia:

37
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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51PubMed
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Articles related to Frontonasal Dysplasia:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Potocki-shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. (24376213)
2014
2
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. (24196422)
2013
3
Neurological picture. Bitemporal hemianopsia in frontonasal dysplasia, callosal agenesis, basal meningocele and eye abnormalities. (23475785)
2013
4
Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse. (22246904)
2012
5
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. (22628242)
2012
6
Salvage of calvarial bone graft using acellular dermal matrix in nasal reconstruction and secondary rhinoplasty for frontonasal dysplasia. (21772175)
2011
7
Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles. (22030970)
2011
8
A case report of frontonasal dysplasia. (20044145)
2010
9
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. (20451171)
2010
10
Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. (18388791)
2008
11
Frontonasal dysplasia. (16213944)
2005
12
Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia. (15235716)
2004
13
Frontonasal dysplasia in 3H1 Br/Br mice. (12629672)
2003
14
Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient. (14564209)
2003
15
Prenatal ultrasound diagnosis of frontonasal dysplasia. (12001190)
2002
16
Multiple pericallosal lipomas in two siblings with frontonasal dysplasia. (11950677)
2002
17
A mild case of frontonasal dysplasia: the rhinologic perspective. (12127227)
2002
18
Hair follicle nevus occurring in frontonasal dysplasia: an electron microscopic observation. (11476112)
2001
19
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. (11311001)
2001
20
The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature. (10960697)
2000
21
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation. (10649800)
2000
22
Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces. (10928859)
2000
23
A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. (10517481)
1999
24
Frontonasal dysplasia with corpus callosum lipoma. (10717702)
1999
25
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases. (9689987)
1998
26
Optic disc anomalies and frontonasal dysplasia. (9602627)
1998
27
Experience with frontonasal dysplasia of varying severity. (8811549)
1996
28
Frontonasal dysplasia: analysis of 21 cases and literature review. (8727576)
1996
29
Severe acrocallosal syndrome or acromelic frontonasal dysplasia? (8080574)
1994
30
Ocular manifestations of frontonasal dysplasia. (8278482)
1994
31
Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot. (8275566)
1993
32
Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). (1733166)
1992
33
Pentalogy of Cantrell, ectopia cordis, and frontonasal dysplasia. (1442903)
1992
34
Frontonasal dysplasia, congenital heart defect, and short stature: a further observation. (2738904)
1989
35
Frontonasal dysplasia associated with tetralogy of Fallot. (3560167)
1987
36
Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective. (3146304)
1986
37
Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression? (6627724)
1983
38
Association of the Klippel-Feil sequence with frontonasal dysplasia sequence. (6641005)
1983
39
Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation. (7151311)
1982
40
Frontonasal dysplasia as an expression of holoprosencephaly. (7308235)
1981
41
The spectrum of frontonasal dysplasia in an inbred pedigree. (7363499)
1980
42
Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation. (438926)
1979
43
Induction of anesthesia in infant with frontonasal dysplasia and meningoencephalocele: a case report. (562107)
1977
44
Frontonasal dysplasia with alar clefts in two sisters. Genetic considerations and surgical correction. (1273139)
1976
45
Frontonasal dysplasia. Possible hereditary connection with other congenital defects. (975597)
1976
46
Median cleft face syndrome (frontonasal dysplasia). (4809799)
1974
47
Frontonasal dysplasia and its orodental aspects. (4533003)
1973
48
Comments on frontonasal dysplasia, ocular hypertelorism and dystopia canthorum. (5006144)
1971
49
Frontonasal dysplasia (median cleft face syndrome): comments on etiology and pathogenesis. (5173199)
1971
50
Frontonasal dysplasia. (5444583)
1970

Genetic Variations for Frontonasal Dysplasia

Expression for genes affiliated with Frontonasal Dysplasia

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

Search GEO for disease gene expression data for Frontonasal Dysplasia.

Pathways for genes affiliated with Frontonasal Dysplasia

Compounds for genes affiliated with Frontonasal Dysplasia

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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Sources for Frontonasal Dysplasia

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