MCID: FRN036
MIFTS: 31

Frontonasal Dysplasia 1 malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Skin diseases

Aliases & Classifications for Frontonasal Dysplasia 1

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Aliases & Descriptions for Frontonasal Dysplasia 1:

Name: Frontonasal Dysplasia 1 50 23 68 25 12
Frontonasal Dysplasia 46 24 68 66
Frontorhiny 23 24 52 68
Median Facial Cleft Syndrome 46 23 24
Frontonasal Malformation 23 24 68
Frontonasal Dysplasia Sequence 24 66
 
Median Cleft Syndrome 46 68
Fnd1 23 68
Fnm 24 68
Fnd 24 68
Alx3-Related Frontonasal Dysplasia 52
Isolated Median Cleft Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
frontorhiny:
Inheritance: Autosomal recessive; Age of onset: Neonatal

HPO:

62
frontonasal dysplasia 1:
Inheritance: sporadic


Classifications:



External Ids:

OMIM50 136760
Orphanet52 ORPHA391474
ICD10 via Orphanet29 Q75.8
MedGen35 C1876203
MeSH37 D000013

Summaries for Frontonasal Dysplasia 1

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NIH Rare Diseases:46 Frontonasal dysplasia is a rare condition that results from abnormal development of the head and face before birth. individuals with this condition have at least two of the following physical features:   widely spaced eyes (ocular hypertelorism);   a flat, broad nose; a slit (cleft) in one or both sides of the nose, causing it to separate into two parts; the tip of the nose may be missing; a central cleft involving the nose, upper lip, or roof of the mouth (cleft lip and/or palate); an abnormal skin-covered gap in the front of the skull where bone should be (anterior cranum bifidum occultum); or  widow's peak hairline.  other features may include other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. some individuals may have intellectual disability. there are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms.  mutations in the alx3 gene cause frontonasal dysplasia type 1. mutations in the alx4 gene cause type 2. type 3 is caused by mutations in the alx1 gene. when frontonasal dysplasia is caused by mutations in the axl1 or axl3 gene, it is inherited in an autosomal recessive fashion. mutations in the axl4 gene are inherited in an autosomal dominant fashion. treatment of the condition depends on the severity of the signs and symptoms and may include one or more surgical procedures as well as special social, educational and medical services. last updated: 8/16/2016

MalaCards based summary: Frontonasal Dysplasia 1, also known as frontonasal dysplasia, is related to frontonasal dysplasia 2 and frontonasal dysplasia 3, and has symptoms including hypertelorism, median cleft lip and midline defect of the nose. An important gene associated with Frontonasal Dysplasia 1 is ALX3 (ALX Homeobox 3). Affiliated tissues include eye, bone and skin.

Genetics Home Reference:24 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.

OMIM:50 The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to... (136760) more...

UniProtKB/Swiss-Prot:68 Frontonasal dysplasia 1: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.

Related Diseases for Frontonasal Dysplasia 1

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Graphical network of the top 20 diseases related to Frontonasal Dysplasia 1:



Diseases related to frontonasal dysplasia 1

Symptoms for Frontonasal Dysplasia 1

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Symptoms by clinical synopsis from OMIM:

136760

Clinical features from OMIM:

136760

HPO human phenotypes related to Frontonasal Dysplasia 1:

(show all 53)
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 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
17 short stature occasional (7.5%) HP:0004322
18 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
19 camptodactyly of finger occasional (7.5%) HP:0100490
20 cognitive impairment occasional (7.5%) HP:0100543
21 median cleft lip HP:0000161
22 epicanthus HP:0000286
23 hypertelorism HP:0000316
24 hypoplasia of the maxilla HP:0000327
25 widow's peak HP:0000349
26 low-set ears HP:0000369
27 preauricular skin tag HP:0000384
28 conductive hearing impairment HP:0000405
29 wide nasal bridge HP:0000431
30 broad nasal tip HP:0000455
31 bifid nasal tip HP:0000456
32 ptosis HP:0000508
33 cataract HP:0000518
34 microphthalmia HP:0000568
35 coloboma HP:0000589
36 brachydactyly syndrome HP:0001156
37 postaxial hand polydactyly HP:0001162
38 intellectual disability HP:0001249
39 agenesis of corpus callosum HP:0001274
40 widely-spaced maxillary central incisors HP:0001566
41 tetralogy of fallot HP:0001636
42 short columella HP:0002000
43 hypoplastic frontal sinuses HP:0002738
44 cranium bifidum occultum HP:0004423
45 pectoral muscle hypoplasia/aplasia HP:0005258
46 lipoma of corpus callosum HP:0006931
47 anterior basal encephalocele HP:0006992
48 frontal cutaneous lipoma HP:0007541
49 median cleft palate HP:0009099
50 radial deviation of finger HP:0009466
51 joint contracture of the hand HP:0009473
52 camptodactyly HP:0012385
53 clinodactyly HP:0030084

Drugs & Therapeutics for Frontonasal Dysplasia 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Frontonasal Dysplasia 1

Genetic Tests for Frontonasal Dysplasia 1

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Genetic tests related to Frontonasal Dysplasia 1:

id Genetic test Affiliating Genes
1 Frontonasal Dysplasia 125 23 ALX3

Anatomical Context for Frontonasal Dysplasia 1

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MalaCards organs/tissues related to Frontonasal Dysplasia 1:

34
Eye, Bone, Skin

Animal Models for Frontonasal Dysplasia 1 or affiliated genes

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Publications for Frontonasal Dysplasia 1

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Variations for Frontonasal Dysplasia 1

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UniProtKB/Swiss-Prot genetic disease variations for Frontonasal Dysplasia 1:

68
id Symbol AA change Variation ID SNP ID
1ALX3p.Leu168ValVAR_063226rs121908167
2ALX3p.Arg183TrpVAR_063227rs121908168
3ALX3p.Arg196TrpVAR_063228rs121908170
4ALX3p.Asn203SerVAR_063229rs121908166

Clinvar genetic disease variations for Frontonasal Dysplasia 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ALX3ALX3, IVS2, A-T, -2single nucleotide variantPathogenic
2ALX3NM_006492.2(ALX3): c.608A> G (p.Asn203Ser)single nucleotide variantPathogenicrs121908166GRCh37Chr 1, 110604172: 110604172
3ALX3NM_006492.2(ALX3): c.502C> G (p.Leu168Val)single nucleotide variantPathogenicrs121908167GRCh37Chr 1, 110607301: 110607301
4ALX3NM_006492.2(ALX3): c.547C> T (p.Arg183Trp)single nucleotide variantPathogenicrs121908168GRCh37Chr 1, 110607256: 110607256
5ALX3NM_006492.2(ALX3): c.543T> A (p.Tyr181Ter)single nucleotide variantPathogenicrs121908169GRCh37Chr 1, 110607260: 110607260
6ALX3NM_006492.2(ALX3): c.578_581delCTGA (p.Thr193Argfs)deletionPathogenicrs387906319GRCh37Chr 1, 110607222: 110607225
7ALX3NM_006492.2(ALX3): c.586C> T (p.Arg196Trp)single nucleotide variantPathogenicrs121908170GRCh37Chr 1, 110607217: 110607217

Expression for genes affiliated with Frontonasal Dysplasia 1

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Search GEO for disease gene expression data for Frontonasal Dysplasia 1.

Pathways for genes affiliated with Frontonasal Dysplasia 1

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GO Terms for genes affiliated with Frontonasal Dysplasia 1

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Sources for Frontonasal Dysplasia 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet