FND
MCID: FRN023
MIFTS: 51

Frontonasal Dysplasia (FND) malady

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

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 1, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, encephalocele/exencephaly and holoprosencephaly/arhinencephaly/unique lateral ventricle. 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.

Genetics Home Reference:21 Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.

Wikipedia:65 Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis,... more...

Aliases & Classifications for Frontonasal Dysplasia

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21Genetics Home Reference, 43NIH Rare Diseases, 22GTR, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
frontonasal dysplasia:
Inheritance: Sporadic; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

frontonasal dysplasia 43 22 21 49 62
median facial cleft syndrome 43 21
frontorhiny 43 21
frontonasal dysplasia sequence 21
frontonasal malformation 21
median cleft syndrome 49
fnd 21
fnm 21


External Ids:

MESH via Orphanet36 C538065
ICD10 via Orphanet26 Q75.8
SNOMED-CT via Orphanet59 254004006
UMLS via Orphanet63 C0432106, C1876203

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

Symptoms for Frontonasal Dysplasia

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49Orphanet
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Symptoms:

49 (show all 23)
  • 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
  • congenital cardiac anomaly/malformation/cardiopathy
  • clinodactyly of fifth finger
  • 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
  • camptodactyly of fingers
  • hypertelorism

Drugs & Therapeutics for Frontonasal Dysplasia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Frontonasal Dysplasia

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Frontonasal Dysplasia:

33
Eye, Skin, Brain, Bone, Testes, Heart, Kidney

Animal Models for Frontonasal Dysplasia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Frontonasal Dysplasia:

37 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7ALX4, ALX1, ALX3
2MP:00053828.7ALX4, ALX1, ALX3
3MP:00053888.7ALX3, ALX1, ALX4
4MP:00053818.7ALX4, ALX1, ALX3
5MP:00053918.7ALX4, ALX1, ALX3
6MP:00053908.6ALX3, ALX1, ALX4
7MP:00053808.6ALX4, ALX1, ALX3
8MP:00053868.5ALX4, ALX1, ALX3
9MP:00107688.5ALX4, ALX1, ALX3
10MP:00036318.4ALX3, ALX1, ALX4
11MP:00053788.2ALX4, ALX1, ALX3

Publications for Frontonasal Dysplasia

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52PubMed
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Articles related to Frontonasal Dysplasia:

(show top 50)    (show all 65)
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
Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia. (23059813)
2013
4
Bifid nose - a mild degree of frontonasal dysplasia. A case report. (23810549)
2013
5
Neurological picture. Bitemporal hemianopsia in frontonasal dysplasia, callosal agenesis, basal meningocele and eye abnormalities. (23475785)
2013
6
Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse. (22246904)
2012
7
Frontonasal dysplasia (Median cleft face syndrome). (22346197)
2012
8
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. (22628242)
2012
9
A case report of frontonasal dysplasia. (20044145)
2010
10
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. (20451171)
2010
11
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. (19409524)
2009
12
Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. (19365836)
2009
13
Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. (19400543)
2009
14
Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. (18388791)
2008
15
Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. (18570229)
2008
16
Frontonasal dysplasia. (16213944)
2005
17
Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs. (15127764)
2004
18
Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia. (15235716)
2004
19
Frontonasal dysplasia in 3H1 Br/Br mice. (12629672)
2003
20
Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient. (14564209)
2003
21
Prenatal ultrasound diagnosis of frontonasal dysplasia. (12001190)
2002
22
Hair follicle nevus occurring in frontonasal dysplasia: an electron microscopic observation. (11476112)
2001
23
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. (11311001)
2001
24
The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature. (10960697)
2000
25
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation. (10649800)
2000
26
A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. (10517481)
1999
27
Frontonasal dysplasia with corpus callosum lipoma. (10717702)
1999
28
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? (10327243)
1999
29
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases. (9689987)
1998
30
Optic disc anomalies and frontonasal dysplasia. (9602627)
1998
31
Experience with frontonasal dysplasia of varying severity. (8811549)
1996
32
Frontonasal dysplasia in two successive generations. (8362915)
1993
33
Intrauterine growth retardation, mild frontonasal dysplasia, phocomelic upper limbs with absent thumbs and a variety of internal malformations including choanal atresia, congenital heart defects, polysplenia, absent gall bladder as well as genitourinary anomalies. A possibly "new" MCA syndrome? (1590982)
1992
34
Pentalogy of Cantrell, ectopia cordis, and frontonasal dysplasia. (1442903)
1992
35
Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? (2225532)
1990
36
Frontonasal dysplasia associated with tetralogy of Fallot. (3560167)
1987
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
Frontonasal dysplasia with coronal craniosynostosis in three sibs. (526592)
1979
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
Frontonasal dysplasia with cutis aplasia congenita. (5173279)
1971
49
Comments on frontonasal dysplasia, ocular hypertelorism and dystopia canthorum. (5006144)
1971
50
Frontonasal dysplasia. (5444583)
1970

Variations for Frontonasal Dysplasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Frontonasal Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1ALX3NM_006492.2(ALX3): c.608A> G (p.Asn203Ser)single nucleotide variantPathogenicrs121908166GRCh37Chr 1, 110604172: 110604172
2ALX3NM_006492.2(ALX3): c.502C> G (p.Leu168Val)single nucleotide variantPathogenicrs121908167GRCh37Chr 1, 110607301: 110607301
3ALX3NM_006492.2(ALX3): c.547C> T (p.Arg183Trp)single nucleotide variantPathogenicrs121908168GRCh37Chr 1, 110607256: 110607256
4ALX3NM_006492.2(ALX3): c.543T> A (p.Tyr181Ter)single nucleotide variantPathogenicrs121908169GRCh37Chr 1, 110607260: 110607260
5ALX3NM_006492.2(ALX3): c.578_581delCTGA (p.Thr193Argfs)deletionPathogenicrs387906319GRCh37Chr 1, 110607222: 110607225
6ALX3NM_006492.2(ALX3): c.586C> T (p.Arg196Trp)single nucleotide variantPathogenicrs121908170GRCh37Chr 1, 110607217: 110607217

Expression for genes affiliated with Frontonasal Dysplasia

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2BioGPS, 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:0056679.3ALX4, ALX1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1palate developmentGO:0600219.3ALX1, ALX4
2positive regulation of transcription from RNA polymerase II promoterGO:0459449.3ALX4, ALX1
3anterior/posterior pattern specificationGO:0099529.2ALX4, ALX1
4embryonic hindlimb morphogenesisGO:0351169.1ALX4, ALX3
5embryonic forelimb morphogenesisGO:0351159.1ALX4, ALX3
6regulation of apoptotic processGO:0429818.7ALX4, ALX3
7embryonic skeletal system morphogenesisGO:0487048.7ALX4, ALX1, ALX3

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

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.3ALX4, ALX1
2sequence-specific DNA bindingGO:0435658.4ALX4, ALX1, ALX3
3sequence-specific DNA binding transcription factor activityGO:0037008.2ALX4, ALX1, ALX3

Products for genes affiliated with Frontonasal Dysplasia

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Sources for Frontonasal Dysplasia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet