Goldenhar syndrome Q87.0
Synonym(s)
Dysplasia oculo-auriculo-vertebral; Goldenhar Syndrome; oculo-auriculo-vertebral dysplasia; oculo-auriculovertebral dysplasia
History
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von Arlt, 1881; Maurice Goldenhar, 1952
Definition
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Neuroectodermal syndrome with the combination of auricular appendages, congenital ear fistulas, auricular malformations, hemifacial dysplasias, epibulbar dermoid cysts, subconjunctival lipomas.
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Occurrence/Epidemiology
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Prevalence: 10/100.000 live births.
Etiopathogenesis
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Mostly sporadic occurrence, only in rare cases autosomal dominant or autosomal recessive inheritance.
Diagnosis
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The constellation of symptoms is diagnostic.
Differential diagnosis
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Other neuroectodermal syndromes such as Haberland syndrome, Proteus syndrome, Goltz syndrome, Schimmelpenning-Feuerstein-Mims syndrome.
Therapy
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Surgically, if necessary.
Note(s)
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The combination of this syndrome with alopecia areata has been described (Güngör O et al. 2016)
Literature
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- Boehncke WH et al (2004) Pre-auricular tumors in an infantDifferential diagnosis of neuroectodermal syndromes. Dermatologist 55: 749-752
- Goldenhar M (1952) Associations malformatives de l`oeil et de loreille: en particulair le syndrome dermoide epibulbaire - appendices auriculaire fistuly auris congenita - et ses relations avec la dysostose mandibulo-faciale. Diss Med Geneva J Genet Hum 1: 243-282.
Güngör O et al (2016) Concomitance of Goldenhar Syndrome with Congenital Alopecia Areata. Genet Couns 27:247-249.
- Miller TD et al (2004) Multiple accessory tragi as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome. J Am Acad Dermatol 50(2 Suppl): S11-13
- Von Arlt CF (1881) Clinical presentation of the diseases of the eye first of the conjunctiva, cornea and sclera, then of the iris and ciliary body. Braumüller, Vienna
Recommended articles
Incoming links (6)
Auricular appendix; Delleman syndrome; Dysplasia, oculo-auriculo-vertebral; Ear malformations; Eye diseases, skin changes; Oculo-auriculovertebral dysplasia;Outgoing links (9)
Alopecia areata (overview); Auricular appendix; Dermoid cyst; Ear fistula and cyst, congenital; Goltz syndrome; Haberland syndrome; Lipoma (overview); Mould penning flintstone mims syndrome; Proteus syndrome;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer