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 51 47 24 69 26 12
Frontorhiny 47 24 25 53 69
Frontonasal Dysplasia 47 25 69 67
Median Facial Cleft Syndrome 47 24 25
Frontonasal Malformation 24 25 69
Fnd1 47 24 69
Isolated Median Cleft Face Syndrome 47 53
 
Alx3-Related Frontonasal Dysplasia 47 53
Frontonasal Dysplasia Sequence 25 67
Median Cleft Syndrome 47 69
Fnd 25 69
Fnm 25 69
Isolated Median Cleft Syndrome 47
Median Cleft Face Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
frontorhiny:
Inheritance: Autosomal recessive; Age of onset: Neonatal

HPO:

63
frontonasal dysplasia 1:
Inheritance: sporadic

Classifications:



External Ids:

OMIM51 136760
Orphanet53 ORPHA391474
ICD10 via Orphanet30 Q75.8
MedGen36 C1876203
MeSH38 D000013

Summaries for Frontonasal Dysplasia 1

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NIH Rare Diseases:47 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 frontorhiny, 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.

UniProtKB/Swiss-Prot:69 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.

Genetics Home Reference:25 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:51 The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to... (136760) more...

Wikipedia:70 Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis,... more...

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

Human phenotypes related to Frontonasal Dysplasia 1:

 63 (show all 49)
id Description HPO Frequency HPO Source Accession
1 hypertelorism63 hallmark (90%) HP:0000316
2 median cleft lip63 typical (50%) HP:0000161
3 midline defect of the nose63 typical (50%) HP:0004122
4 cryptorchidism63 occasional (7.5%) HP:0000028
5 cleft palate63 occasional (7.5%) HP:0000175
6 hydrocephalus63 occasional (7.5%) HP:0000238
7 low-set, posteriorly rotated ears63 occasional (7.5%) HP:0000368
8 preauricular skin tag63 occasional (7.5%) HP:0000384
9 conductive hearing impairment63 occasional (7.5%) HP:0000405
10 choanal atresia63 occasional (7.5%) HP:0000453
11 webbed neck63 occasional (7.5%) HP:0000465
12 single transverse palmar crease63 occasional (7.5%) HP:0000954
13 holoprosencephaly63 occasional (7.5%) HP:0001360
14 craniosynostosis63 occasional (7.5%) HP:0001363
15 encephalocele63 occasional (7.5%) HP:0002084
16 clinodactyly of the 5th finger63 occasional (7.5%) HP:0004209
17 short stature63 occasional (7.5%) HP:0004322
18 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
19 camptodactyly of finger63 occasional (7.5%) HP:0100490
20 cognitive impairment63 occasional (7.5%) HP:0100543
21 epicanthus63 HP:0000286
22 hypoplasia of the maxilla63 HP:0000327
23 widow's peak63 HP:0000349
24 low-set ears63 HP:0000369
25 wide nasal bridge63 HP:0000431
26 broad nasal tip63 HP:0000455
27 bifid nasal tip63 HP:0000456
28 ptosis63 HP:0000508
29 cataract63 HP:0000518
30 microphthalmia63 HP:0000568
31 coloboma63 HP:0000589
32 brachydactyly syndrome63 HP:0001156
33 postaxial hand polydactyly63 HP:0001162
34 intellectual disability63 HP:0001249
35 agenesis of corpus callosum63 HP:0001274
36 widely-spaced maxillary central incisors63 HP:0001566
37 tetralogy of fallot63 HP:0001636
38 short columella63 HP:0002000
39 hypoplastic frontal sinuses63 HP:0002738
40 cranium bifidum occultum63 HP:0004423
41 pectoral muscle hypoplasia/aplasia63 HP:0005258
42 lipoma of corpus callosum63 HP:0006931
43 anterior basal encephalocele63 HP:0006992
44 frontal cutaneous lipoma63 HP:0007541
45 median cleft palate63 HP:0009099
46 radial deviation of finger63 HP:0009466
47 joint contracture of the hand63 HP:0009473
48 camptodactyly63 HP:0012385
49 clinodactyly63 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 126 24 ALX3

Anatomical Context for Frontonasal Dysplasia 1

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MalaCards organs/tissues related to Frontonasal Dysplasia 1:

35
Eye, Bone, Skin, Brain

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:

69
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, -2SNVPathogenicChr na, -1: -1
2ALX3NM_006492.2(ALX3): c.608A> G (p.Asn203Ser)SNVPathogenicrs121908166GRCh37Chr 1, 110604172: 110604172
3ALX3NM_006492.2(ALX3): c.502C> G (p.Leu168Val)SNVPathogenicrs121908167GRCh37Chr 1, 110607301: 110607301
4ALX3NM_006492.2(ALX3): c.547C> T (p.Arg183Trp)SNVPathogenicrs121908168GRCh37Chr 1, 110607256: 110607256
5ALX3NM_006492.2(ALX3): c.543T> A (p.Tyr181Ter)SNVPathogenicrs121908169GRCh37Chr 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)SNVPathogenicrs121908170GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet