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OAFNS
MCID: OCL030
MIFTS: 25
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Oculoauriculofrontonasal Syndrome (OAFNS)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases, Smell/Taste diseases
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MalaCards integrated aliases for Oculoauriculofrontonasal Syndrome: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 Eye diseases Skin diseases Smell/Taste diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 398156DefinitionOculoauriculofrontonasal 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. Related phenotypes are hypertelorism and bifid nasal tip OMIM® : 57 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) (Updated 05-Mar-2021) Wikipedia : 74 Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a... more... |
Diseases related to Oculoauriculofrontonasal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 16)
Graphical network of the top 20 diseases related to Oculoauriculofrontonasal Syndrome:
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Human phenotypes related to Oculoauriculofrontonasal Syndrome:58 31 (show all 23)
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Articles related to Oculoauriculofrontonasal Syndrome:(show all 16)
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Search
GEO
for disease gene expression data for Oculoauriculofrontonasal Syndrome.
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