Goldenhar syndromeQ87.0
Synonym(s)
Dysplasia oculo-auriculo-vertebral; Goldenhar Syndrome; oculo-auriculo-vertebral dysplasia; oculo-auriculovertebral dysplasia
HistoryThis section has been translated automatically.
von Arlt, 1881; Maurice Goldenhar, 1952
DefinitionThis section has been translated automatically.
Neuroectodermal syndrome with the combination of auricular appendages, congenital ear fistulas, auricular malformations, hemifacial dysplasias, epibulbar dermoid cysts, subconjunctival lipomas.
Occurrence/EpidemiologyThis section has been translated automatically.
Prevalence: 10/100.000 live births.
EtiopathogenesisThis section has been translated automatically.
Mostly sporadic occurrence, only in rare cases autosomal dominant or autosomal recessive inheritance.
DiagnosisThis section has been translated automatically.
The constellation of symptoms is diagnostic.
Differential diagnosisThis section has been translated automatically.
Other neuroectodermal syndromes such as Haberland syndrome, Proteus syndrome, Goltz syndrome, Schimmelpenning-Feuerstein-Mims syndrome.
TherapyThis section has been translated automatically.
Surgically, if necessary.
Note(s)This section has been translated automatically.
The combination of this syndrome with alopecia areata has been described (Güngör O et al. 2016)
LiteratureThis section has been translated automatically.
- 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