![]() Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. Other features: Small stature, delayed psychomotor development, retardation (seen with cerebral developmental anomalies and microphthalmia), speech disorders and autistic behaviors.* Other organ abnormalities: cardiac defects (most frequently atrial septal defect and ventricular septal defects), and renal defects such as agenesis or multicystic kidneys. Skeletal abnormalities: mandibular deformities, torticollis, scoliosis, kyphosis.Otorhinolaryngological abnormalities: microtia, anotia, partial to complete atresia of external acoustic meatus, preauricular appendages, deafness, and microsomia.Ocular abnormalities: epibulbar dermoids, microphthalmia, anophthalmia, eye asymmetry or dysmorphy.However, the presentation of the syndrome is highly variable. The syndrome is characterized by hemifacial microsomia due to underdevelopment of structures derived from the 1st and 2nd branchial arches such as eyes, ears, palate, mandible. No general consensus on the minimal diagnostic criteria exists. Īn increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested, but the difference was shown to be statistically insignificant. It has been suggested that there is a branchial arch development issue late in the first trimester. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. The cause of Goldenhar syndrome is largely unknown. Granulosa cell tumors may be associated as well. Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids and hearing loss (see hearing loss with craniofacial syndromes), and deafness or blindness in one or both ears/eyes. While it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases). Typically, the organ will either not be present on one side or will be underdeveloped. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys and lungs. Signs and symptoms Limbal dermoid as seen in Goldenhar syndrome This condition can be inherited in an autosomal dominant manner.Ĭhief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. It affects between 1 in 3,500 and 1 in 5,600 live births, with a male-to-female ratio of 3:2. The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ and vertebrae disruption. It is associated with anomalous development of the first branchial arch and second branchial arch. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus. ![]() Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. doi:10.1002/ajmg.a.Oculo-auriculo-vertebral spectrum (OAVS), oculo-auriculo-vertebral dysplasia (OAV), expanded spectrum of hemifacial microsomia, facioauriculovertebral dysplasiaįemale with Goldenhar syndrome, showing preauricular skin tags Quality of life in adolescents and adults with CHARGE syndrome. Hartshorne N, Hudson A, Maccuspie J, et al. Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome. Vesseur A, Langereis M, Free R, Snik A, Van ravenswaaij-arts C, Mylanus E. Aspiration in children with CHARGE syndrome. White DR, Giambra BK, Hopkin RJ, Daines CL, Rutter MJ. National Organization for Rare Disorders. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Zentner GE, Layman WS, Martin DM, Scacheri PC. Seattle (WA): University of Washington, Seattle 1993-2020. Available from: In: Adam MP, Ardinger HH, Pagon RA, et al., editors.
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