Oculoauriculofrontonasal syndrome

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.



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Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 11807893
 Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male.
Ishmael HA, Begleiter ML, Regier EJ, Butler MG.
Am J Med Genet. 2002;107(2):169-73.
Micrognathia Broad nasal tip
Females Fluorescent in Situ Hybridization Homo sapiens Infant Male Nose
2
(39.0%)		 18388775
 Characterizing the oculoauriculofrontonasal syndrome.
Gabbett MT, Robertson SP, Broadbent R, Aftimos S, Sachdev R, Nezarati MM.
Clin Dysmorphol. 2008;17(2):79-85.
Cranium bifidum occultum
ALX3
Craniofacial Abnormalities Facies Females Goldenhar Syndrome Homo sapiens Infant Male Review Literature as Topic Syndrome
2
(39.0%)		 8939380
 Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome.
Casey HD, Braddock SR, Haskins RC, Carey JC, Morales L Jr.
Cleft Palate Craniofac J. 1996;33(6):519-23.
Encephalocele
Child, Preschool Craniofacial Abnormalities External Ear Females Goldenhar Syndrome Homo sapiens Male Nose Syndrome
4
(17.5%)		 27723380
 Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features.
Tunc T, Polat A, Altan B, Yapici AK, Saldir M, Sari S, Sari E, Bayram Y, Eski M.
Cleft Palate Craniofac J. 2017;54(6):749-753.
Inguinal hernia
Craniofacial Abnormalities Differential Diagnosis External Ear Eye Abnormalities Females Homo sapiens Infant, Newborn
4
(17.5%)		 25291089
 A Diagnostic Conundrum: Ectopic Nasal Ossification, Submucosal Alveolar Cleft, Absent Posterior Atlantal Arch, and Corpus Callosum Lipoma.
Borumandi F, Chadha A, Dediol E, Ugleic V.
Cleft Palate Craniofac J. 2015;52(6):761-5.
Lipoma of corpus callosum
SERPINE1
Cervical Vertebrae Cleft Palate Corpus Callosum Differential Diagnosis Females Homo sapiens Lipoma Magnetic Resonance Imaging Nose Phenotype X-Ray Computed Tomography
6
(4.0%)		 17096318
 GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC.
Am J Med Genet A. 2006;140(23):2571-6.
Anophthalmia
GLI2 PTCH1
rs115556836 rs121917708 rs28936404
Anophthalmos Brazil Central Nervous System Child Females Holoprosencephaly Homo sapiens Kruppel-Like Transcription Factors Magnetic Resonance Imaging Mutation Nose Nuclear Proteins Phenotype Zinc Finger Protein Gli2
        

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000456 Bifid nasal tip Very frequent (99-80%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000289 Broad philtrum Frequent (79-30%)
HP:0000324 Facial asymmetry Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000384 Preauricular skin tag Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000445 Wide nose Frequent (79-30%)
HP:0000636 Upper eyelid coloboma Frequent (79-30%)
HP:0001140 Limbal dermoid Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0002084 Encephalocele Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0006931 Lipoma of corpus callosum Frequent (79-30%)
HP:0008551 Microtia Frequent (79-30%)
HP:0010609 Skin tags Frequent (79-30%)
HP:0410030 Cleft lip Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0000528 Anophthalmia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID