Oculoauriculofrontonasal Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 601452

ICD10 via Orphanet ³³ Q87.0

UMLS via Orphanet ⁷² C1832352

Orphanet ⁵⁸ ORPHA398156

UMLS ⁷¹ C1832352

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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)

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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
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:

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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

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Drugs & Therapeutics for Oculoauriculofrontonasal Syndrome

Search Clinical Trials , NIH Clinical Center for Oculoauriculofrontonasal Syndrome

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Genetic Tests for Oculoauriculofrontonasal Syndrome

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Anatomical Context for Oculoauriculofrontonasal Syndrome

MalaCards organs/tissues related to Oculoauriculofrontonasal Syndrome:

⁴⁰

Skin, Bone

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Publications for Oculoauriculofrontonasal Syndrome

Articles related to Oculoauriculofrontonasal Syndrome:

(show all 16)

#	Title	Authors	PMID	Year
1	Characterizing the oculoauriculofrontonasal syndrome. ⁶¹ ⁵⁶	Gabbett MT...Nezarati MM	18388775	2008
2	Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male. ⁶¹ ⁵⁶	Ishmael HA...Butler MG	11807893	2002
3	Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis. ⁶¹ ⁵⁶	Toriello HV...Mann R	8574425	1995
4	Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis. ⁵⁶	Guion-Almeida ML...Richieri-Costa A	20602490	2010
5	Oculoauriculofrontonasal spectrum in an adult Brazilian male. ⁵⁶	Guion-Almeida ML...Lopes VL	9220196	1997
6	Oculo-Auriculo-Fronto-Nasal Syndrome With Duane Retraction Syndrome and Dysplastic Bony Structure in the Midline of Nose. ⁶¹	Ito R...Funayama E	31756883	2019
7	The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. ⁶¹	Lehalle D...Faivre L	30548201	2018
8	New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome. ⁶¹	Yano S...Gao H	30209809	2018
9	Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features. ⁶¹	Tunc T...Eski M	27723380	2017
10	A Diagnostic Conundrum: Ectopic Nasal Ossification, Submucosal Alveolar Cleft, Absent Posterior Atlantal Arch, and Corpus Callosum Lipoma. ⁶¹	Borumandi F...Uglesic V	25291089	2015
11	Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome. ⁶¹	Evans KN...Hing AV	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	Adolphs N...Hoffmeister B	22245432	2012
13	Airway anomalies in the oculoauriculofrontonasal syndrome. ⁶¹	Roman Corona-Rivera J...Santibanez-Escobar LP	17159514	2007
14	GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? ⁶¹	Rahimov F...Murray JC	17096318	2006
15	Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasound. ⁶¹	Johnson JM...Chitayat D	15593363	2005
16	Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome. ⁶¹	Casey HD...Morales L	8939380	1996

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Genes for Oculoauriculofrontonasal Syndrome

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Variations for Oculoauriculofrontonasal Syndrome

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Expression for Oculoauriculofrontonasal Syndrome

Search GEO for disease gene expression data for Oculoauriculofrontonasal Syndrome.

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Pathways for Oculoauriculofrontonasal Syndrome

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GO Terms for Oculoauriculofrontonasal Syndrome

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Oculoauriculofrontonasal Syndrome (OAFNS)

Aliases & Classifications for Oculoauriculofrontonasal Syndrome

MalaCards integrated aliases for Oculoauriculofrontonasal Syndrome:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Oculoauriculofrontonasal Syndrome

Related Diseases for Oculoauriculofrontonasal Syndrome

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

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

Symptoms & Phenotypes for Oculoauriculofrontonasal Syndrome

Human phenotypes related to Oculoauriculofrontonasal Syndrome:

Clinical features from OMIM:

Drugs & Therapeutics for Oculoauriculofrontonasal Syndrome

Genetic Tests for Oculoauriculofrontonasal Syndrome

Anatomical Context for Oculoauriculofrontonasal Syndrome

MalaCards organs/tissues related to Oculoauriculofrontonasal Syndrome:

Publications for Oculoauriculofrontonasal Syndrome

Articles related to Oculoauriculofrontonasal Syndrome:

Genes for Oculoauriculofrontonasal Syndrome

Variations for Oculoauriculofrontonasal Syndrome

Expression for Oculoauriculofrontonasal Syndrome

Pathways for Oculoauriculofrontonasal Syndrome

GO Terms for Oculoauriculofrontonasal Syndrome

Sources for Oculoauriculofrontonasal Syndrome