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 52 48 24 70 27 12
Frontorhiny 48 24 25 54 70
Frontonasal Dysplasia 48 25 70 68
Median Facial Cleft Syndrome 48 24 25
Frontonasal Malformation 24 25 70
Fnd1 48 24 70
Isolated Median Cleft Face Syndrome 48 54
 
Alx3-Related Frontonasal Dysplasia 48 54
Frontonasal Dysplasia Sequence 25 68
Median Cleft Syndrome 48 70
Fnd 25 70
Fnm 25 70
Isolated Median Cleft Syndrome 48
Median Cleft Face Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
frontorhiny:
Inheritance: Autosomal recessive; Age of onset: Neonatal

HPO:

64
frontonasal dysplasia 1:
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 136760
Orphanet54 ORPHA391474
ICD10 via Orphanet31 Q75.8
MedGen37 C1876203
MeSH39 D000013

Summaries for Frontonasal Dysplasia 1

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NIH Rare Diseases:48 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.

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

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 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 & Phenotypes 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:

 64 (show all 49)
id Description HPO Frequency HPO Source Accession
1 hypertelorism64 hallmark (90%) HP:0000316
2 median cleft lip64 typical (50%) HP:0000161
3 midline defect of the nose64 typical (50%) HP:0004122
4 cryptorchidism64 occasional (7.5%) HP:0000028
5 cleft palate64 occasional (7.5%) HP:0000175
6 hydrocephalus64 occasional (7.5%) HP:0000238
7 low-set, posteriorly rotated ears64 occasional (7.5%) HP:0000368
8 preauricular skin tag64 occasional (7.5%) HP:0000384
9 conductive hearing impairment64 occasional (7.5%) HP:0000405
10 choanal atresia64 occasional (7.5%) HP:0000453
11 webbed neck64 occasional (7.5%) HP:0000465
12 single transverse palmar crease64 occasional (7.5%) HP:0000954
13 holoprosencephaly64 occasional (7.5%) HP:0001360
14 craniosynostosis64 occasional (7.5%) HP:0001363
15 encephalocele64 occasional (7.5%) HP:0002084
16 clinodactyly of the 5th finger64 occasional (7.5%) HP:0004209
17 short stature64 occasional (7.5%) HP:0004322
18 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
19 camptodactyly of finger64 occasional (7.5%) HP:0100490
20 cognitive impairment64 occasional (7.5%) HP:0100543
21 epicanthus64 HP:0000286
22 hypoplasia of the maxilla64 HP:0000327
23 widow's peak64 HP:0000349
24 low-set ears64 HP:0000369
25 wide nasal bridge64 HP:0000431
26 broad nasal tip64 HP:0000455
27 bifid nasal tip64 HP:0000456
28 ptosis64 HP:0000508
29 cataract64 HP:0000518
30 microphthalmia64 HP:0000568
31 coloboma64 HP:0000589
32 brachydactyly syndrome64 HP:0001156
33 postaxial hand polydactyly64 HP:0001162
34 intellectual disability64 HP:0001249
35 agenesis of corpus callosum64 HP:0001274
36 widely-spaced maxillary central incisors64 HP:0001566
37 tetralogy of fallot64 HP:0001636
38 short columella64 HP:0002000
39 hypoplastic frontal sinuses64 HP:0002738
40 cranium bifidum occultum64 HP:0004423
41 pectoral muscle hypoplasia/aplasia64 HP:0005258
42 lipoma of corpus callosum64 HP:0006931
43 anterior basal encephalocele64 HP:0006992
44 frontal cutaneous lipoma64 HP:0007541
45 median cleft palate64 HP:0009099
46 radial deviation of finger64 HP:0009466
47 joint contracture of the hand64 HP:0009473
48 camptodactyly64 HP:0012385
49 clinodactyly64 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 127 24 ALX3

Anatomical Context for Frontonasal Dysplasia 1

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MalaCards organs/tissues related to Frontonasal Dysplasia 1:

36
Eye, Bone, Skin, Brain

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet