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Oculoauriculofrontonasal syndrome(OAFNS)

MedGen UID:: 316969
•Concept ID:: C1832352
•: Disease or Syndrome

Synonyms:	OAFNS; Oculoauriculofrontonasal dysplasia
SNOMED CT:	Oculoauriculofrontonasal syndrome (782783009); OAFNS - oculoauriculofrontonasal syndrome (782783009)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0011082
OMIM®:	601452
Orphanet:	ORPHA398156

Definition

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). [from OMIM]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOculoauriculofrontonasal syndrome

Pathological process
- Disease
  - Non-Neoplastic Disorder
    - Non-Neoplastic Disorder by Special Category
      - Rare Non-Neoplastic Disorder
        Frontonasal dysplasia
        Oculoauriculofrontonasal syndrome

Follow this link to review classifications for Oculoauriculofrontonasal syndrome in Orphanet.

Professional guidelines

PubMed

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L
Am J Med Genet A 2022 Jul;188(7):2036-2047. Epub 2022 Apr 21 doi: 10.1002/ajmg.a.62739. PMID: 35445792

See all (1)

Recent clinical studies

Etiology

Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.

Evans KN, Gruss JS, Khanna PC, Cunningham ML, Cox TC, Hing AV
Am J Med Genet A 2013 Jun;161A(6):1345-53. Epub 2013 May 1 doi: 10.1002/ajmg.a.35926. PMID: 23637006

The oculo-auriculo-fronto-nasal syndrome (OAFNS) - description of a rare and complex craniofacial deformity and its interdisciplinary management before school age.

Adolphs N, Arnaud E, Haberl EJ, Graul-Neumann L, Schmidt G, Menneking H, Hoffmeister B
J Craniomaxillofac Surg 2012 Dec;40(8):668-74. Epub 2012 Jan 13 doi: 10.1016/j.jcms.2011.11.003. PMID: 22245432

See all (2)

Diagnosis

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

Serigatto HR, Kokitsu-Nakata NM, Vendramini-Pittoli S, Tonello C, Moura PP, Peixoto AP, Gomes LP, Zechi-Ceide RM
Am J Med Genet A 2023 Oct;191(10):2493-2507. Epub 2023 Jun 7 doi: 10.1002/ajmg.a.63319. PMID: 37282829

Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.

Serigatto HR, Kokitsu-Nakata NM, Moura PP, Vendramini-Pittoli S, Virmond LA, Peixoto AP, Tonello C, Brito LA, Passos-Bueno MR, Zechi-Ceide RM
Clin Dysmorphol 2023 Jan 1;32(1):21-24. Epub 2022 Sep 12 doi: 10.1097/MCD.0000000000000434. PMID: 36503920

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Lehalle D, Altunoglu U, Bruel AL, Assoum M, Duffourd Y, Masurel A, Baujat G, Bessieres B, Captier G, Edery P, Elçioğlu NH, Geneviève D, Goldenberg A, Héron D, Grotto S, Marlin S, Putoux A, Rossi M, Saugier-Veber P, Triau S, Cabrol C, Vézain M, Vincent-Delorme C, Thauvin-Robinet C, Thevenon J, Vabres P, Callier P, Kayserili H, Faivre L
Am J Med Genet A 2018 Dec;176(12):2740-2750. Epub 2018 Dec 10 doi: 10.1002/ajmg.a.40662. PMID: 30548201

Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis.

Toriello HV, Higgins JV, Mann R
Clin Dysmorphol 1995 Oct;4(4):338-46. doi: 10.1097/00019605-199510000-00010. PMID: 8574425

See all (11)

Prognosis

The oculo-auriculo-fronto-nasal syndrome (OAFNS) - description of a rare and complex craniofacial deformity and its interdisciplinary management before school age.

Adolphs N, Arnaud E, Haberl EJ, Graul-Neumann L, Schmidt G, Menneking H, Hoffmeister B
J Craniomaxillofac Surg 2012 Dec;40(8):668-74. Epub 2012 Jan 13 doi: 10.1016/j.jcms.2011.11.003. PMID: 22245432

See all (1)

Clinical prediction guides

Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.

Evans KN, Gruss JS, Khanna PC, Cunningham ML, Cox TC, Hing AV
Am J Med Genet A 2013 Jun;161A(6):1345-53. Epub 2013 May 1 doi: 10.1002/ajmg.a.35926. PMID: 23637006

See all (1)

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Oculoauriculofrontonasal syndrome(OAFNS)

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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Table of contents

Clinical resources

Practice guidelines

Molecular resources

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