FND
MCID: FRN023
MIFTS: 44

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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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 based summary: Frontonasal Dysplasia, also known as median facial cleft syndrome, is related to polydactyly and frontonasal dysplasia 1, and has symptoms including An important gene associated with Frontonasal Dysplasia is ALX4 (ALX homeobox 4). Affiliated tissues include eye, skin and bone, 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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Frontonasal Dysplasia, Aliases & Descriptions:

Name: Frontonasal Dysplasia 42 22 21 62
Median Facial Cleft Syndrome 42 21 62
Frontonasal Dysplasia Sequence 21 62
Frontonasal Malformation 21 62
 
Frontorhiny 42 21
Fnd 21 62
Fnm 21 62


Classifications:



Related Diseases for Frontonasal Dysplasia

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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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HPO human phenotypes related to Frontonasal Dysplasia:

(show all 21)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 median cleft lip typical (50%) HP:0000161
3 midline defect of the nose typical (50%) HP:0004122
4 cryptorchidism occasional (7.5%) HP:0000028
5 cleft palate occasional (7.5%) HP:0000175
6 hydrocephalus occasional (7.5%) HP:0000238
7 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
8 preauricular skin tag occasional (7.5%) HP:0000384
9 conductive hearing impairment occasional (7.5%) HP:0000405
10 choanal atresia occasional (7.5%) HP:0000453
11 webbed neck occasional (7.5%) HP:0000465
12 single transverse palmar crease occasional (7.5%) HP:0000954
13 holoprosencephaly occasional (7.5%) HP:0001360
14 craniosynostosis occasional (7.5%) HP:0001363
15 encephalocele occasional (7.5%) HP:0002084
16 malformation of the heart and great vessels occasional (7.5%) HP:0002564
17 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
18 short stature occasional (7.5%) HP:0004322
19 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
20 camptodactyly of finger occasional (7.5%) HP:0100490
21 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Frontonasal Dysplasia

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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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Genetic tests related to Frontonasal Dysplasia:

id Genetic test Affiliating Genes
1 Frontonasal Dysplasia22

Anatomical Context for Frontonasal Dysplasia

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MalaCards organs/tissues related to Frontonasal Dysplasia:

32
Eye, Skin, Bone, Brain, Heart, Kidney, Occipital lobe

Animal Models for Frontonasal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Frontonasal Dysplasia:

36 (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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Articles related to Frontonasal Dysplasia:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Potocki-shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. (24376213)
2014
2
Frontonasal dysplasia with severe occipital lobe hypoplasia. (24756851)
2014
3
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. (24196422)
2013
4
Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia. (23059813)
2013
5
Bifid nose - a mild degree of frontonasal dysplasia. A case report. (23810549)
2013
6
Neurological picture. Bitemporal hemianopsia in frontonasal dysplasia, callosal agenesis, basal meningocele and eye abnormalities. (23475785)
2013
7
Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele. (24592072)
2013
8
Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse. (22246904)
2012
9
Frontonasal dysplasia (Median cleft face syndrome). (22346197)
2012
10
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. (22628242)
2012
11
A case report of frontonasal dysplasia. (20044145)
2010
12
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. (20451171)
2010
13
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. (19409524)
2009
14
Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. (19365836)
2009
15
Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. (19400543)
2009
16
Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. (18388791)
2008
17
Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. (18570229)
2008
18
Frontonasal dysplasia. (16213944)
2005
19
Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs. (15127764)
2004
20
Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia. (15235716)
2004
21
Frontonasal dysplasia in 3H1 Br/Br mice. (12629672)
2003
22
Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient. (14564209)
2003
23
Prenatal ultrasound diagnosis of frontonasal dysplasia. (12001190)
2002
24
Hair follicle nevus occurring in frontonasal dysplasia: an electron microscopic observation. (11476112)
2001
25
The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature. (10960697)
2000
26
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation. (10649800)
2000
27
A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. (10517481)
1999
28
Frontonasal dysplasia with corpus callosum lipoma. (10717702)
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
The spectrum of frontonasal dysplasia in an inbred pedigree. (7363499)
1980
42
Frontonasal dysplasia with coronal craniosynostosis in three sibs. (526592)
1979
43
Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation. (438926)
1979
44
Induction of anesthesia in infant with frontonasal dysplasia and meningoencephalocele: a case report. (562107)
1977
45
Frontonasal dysplasia with alar clefts in two sisters. Genetic considerations and surgical correction. (1273139)
1976
46
Frontonasal dysplasia. Possible hereditary connection with other congenital defects. (975597)
1976
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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Expression for genes affiliated with Frontonasal Dysplasia

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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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet