OAFNS
MCID: OCL030
MIFTS: 25

Oculoauriculofrontonasal Syndrome (OAFNS)

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

Aliases & Classifications for Oculoauriculofrontonasal Syndrome

MalaCards integrated aliases for Oculoauriculofrontonasal Syndrome:

Name: Oculoauriculofrontonasal Syndrome 56 52 58 71
Oafns 56 52 58
Oculoauriculofrontonasal Dysplasia 56 52

Characteristics:

Orphanet epidemiological data:

58
oculoauriculofrontonasal syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Oculoauriculofrontonasal Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 398156 Definition Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip /palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated. Visit the Orphanet disease page for more resources.

MalaCards based summary : Oculoauriculofrontonasal Syndrome, also known as oafns, is related to frontonasal dysplasia 1 and hypertelorism. Affiliated tissues include skin and bone, and related phenotypes are hypertelorism and bifid nasal tip

OMIM : 56 The OAFNS phenotype combines abnormalities of the morphogenesis of the first and second branchial arches (microtia/skin tags, epibulbar dermoids, cleft lip/palate, mandibular hypoplasia, and facial asymmetry) with malformations due to the anomalous development of the frontonasal eminence and maxillary processes (notched/bifid nasal tip, cleft lip and/or palate, and encephalocele) (Gabbett et al., 2008). (601452)

Related Diseases for Oculoauriculofrontonasal Syndrome

Diseases related to Oculoauriculofrontonasal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 1 11.6
2 hypertelorism 10.2
3 hemifacial microsomia 10.2
4 craniofacial microsomia 10.2
5 inguinal hernia 10.1
6 cervical rib 10.1
7 coloboma of macula 10.1
8 lipomatosis, multiple 10.1
9 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
10 pleomorphic lipoma 10.1
11 skin tag 10.1
12 cleft lip 10.1
13 polymicrogyria 10.1
14 branchial arch defects 10.1
15 cleft lip/palate 10.1
16 facial cleft 10.1
17 microtia 10.1

Graphical network of the top 20 diseases related to Oculoauriculofrontonasal Syndrome:



Diseases related to Oculoauriculofrontonasal Syndrome

Symptoms & Phenotypes for Oculoauriculofrontonasal Syndrome

Human phenotypes related to Oculoauriculofrontonasal Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 bifid nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000456
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
5 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
6 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
7 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
8 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
9 broad philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000289
10 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
11 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
12 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
13 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
14 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
15 encephalocele 58 31 frequent (33%) Frequent (79-30%) HP:0002084
16 upper eyelid coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000636
17 cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0410030
18 lipoma of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0006931
19 limbal dermoid 31 frequent (33%) HP:0001140
20 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
21 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
22 epibulbar dermoid 58 Frequent (79-30%)
23 skin tags 58 Frequent (79-30%)

Clinical features from OMIM:

601452

Drugs & Therapeutics for Oculoauriculofrontonasal Syndrome

Search Clinical Trials , NIH Clinical Center for Oculoauriculofrontonasal Syndrome

Genetic Tests for Oculoauriculofrontonasal Syndrome

Anatomical Context for Oculoauriculofrontonasal Syndrome

MalaCards organs/tissues related to Oculoauriculofrontonasal Syndrome:

40
Skin, Bone

Publications for Oculoauriculofrontonasal Syndrome

Articles related to Oculoauriculofrontonasal Syndrome:

(show all 16)
# Title Authors PMID Year
1
Characterizing the oculoauriculofrontonasal syndrome. 61 56
18388775 2008
2
Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male. 61 56
11807893 2002
3
Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis. 61 56
8574425 1995
4
Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis. 56
20602490 2010
5
Oculoauriculofrontonasal spectrum in an adult Brazilian male. 56
9220196 1997
6
Oculo-Auriculo-Fronto-Nasal Syndrome With Duane Retraction Syndrome and Dysplastic Bony Structure in the Midline of Nose. 61
31756883 2019
7
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. 61
30548201 2018
8
New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome. 61
30209809 2018
9
Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features. 61
27723380 2017
10
A Diagnostic Conundrum: Ectopic Nasal Ossification, Submucosal Alveolar Cleft, Absent Posterior Atlantal Arch, and Corpus Callosum Lipoma. 61
25291089 2015
11
Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome. 61
23637006 2013
12
The oculo-auriculo-fronto-nasal syndrome (OAFNS) - description of a rare and complex craniofacial deformity and its interdisciplinary management before school age. 61
22245432 2012
13
Airway anomalies in the oculoauriculofrontonasal syndrome. 61
17159514 2007
14
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 61
17096318 2006
15
Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasound. 61
15593363 2005
16
Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome. 61
8939380 1996

Variations for Oculoauriculofrontonasal Syndrome

Expression for Oculoauriculofrontonasal Syndrome

Search GEO for disease gene expression data for Oculoauriculofrontonasal Syndrome.

Pathways for Oculoauriculofrontonasal Syndrome

GO Terms for Oculoauriculofrontonasal Syndrome

Sources for Oculoauriculofrontonasal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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