MCID: FRN036
MIFTS: 30

Frontonasal Dysplasia 1 malady

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

Aliases & Classifications for Frontonasal Dysplasia 1

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Aliases & Descriptions for Frontonasal Dysplasia 1:

Name: Frontonasal Dysplasia 1 49 11 45 22 67 24
Frontorhiny 45 22 23 51 67
Frontonasal Dysplasia 45 23 67 65
Median Facial Cleft Syndrome 45 22 23
Frontonasal Malformation 22 23 67
Fnd1 45 22 67
 
Alx3-Related Frontonasal Dysplasia 45 51
Frontonasal Dysplasia Sequence 23 65
Isolated Median Cleft Syndrome 45 51
Median Cleft Syndrome 45 67
Fnm 23 67
Fnd 23 67

Characteristics:

HPO:

61
frontonasal dysplasia 1:
Inheritance: sporadic


Classifications:



External Ids:

OMIM49 136760
Orphanet51 391474
ICD10 via Orphanet28 Q75.8
MedGen34 C1876203
MeSH36 D000013
UMLS65 C1876203, C0265232

Summaries for Frontonasal Dysplasia 1

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OMIM:49 The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to... (136760) more...

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, skin and bone.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 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:23 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.

Related Diseases for Frontonasal Dysplasia 1

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

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 122 ALX3

Anatomical Context for Frontonasal Dysplasia 1

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MalaCards organs/tissues related to Frontonasal Dysplasia 1:

33
Eye, Skin, Bone

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:

67
id Symbol AA change Variation ID SNP ID
1ALX3p.Leu168ValVAR_063226
2ALX3p.Arg183TrpVAR_063227
3ALX3p.Arg196TrpVAR_063228rs121908170
4ALX3p.Asn203SerVAR_063229

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet