Goldenhar syndrome
Goldenhar syndrome | |
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Other names | Oculo-auriculo-vertebral spectrum (OAVS), oculo-auriculo-vertebral dysplasia (OAV), expanded spectrum of hemifacial microsomia, facioauriculovertebral dysplasia |
skin tags | |
Specialty | Medical genetics |
Goldenhar syndrome is a rare
The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ and vertebrae disruption.
It affects between 1 in 3,500 and 1 in 5,600 live births, with a male-to-female ratio of 3:2.[3]
Signs and symptoms
Chief markers of Goldenhar syndrome are incomplete development of the ear, nose,
Other problems can include severe
Causes
The cause of Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a branchial arch development issue late in the first trimester.[citation needed]
An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested, but the difference was shown to be statistically insignificant.[4]
Diagnosis
No general consensus on the minimal diagnostic criteria exists.[5] 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. However, the presentation of the syndrome is highly variable.[6] Some of its features may include:[6]
- Ocular abnormalities: epibulbar dermoids, microphthalmia, anophthalmia, eye asymmetry or dysmorphy.
- Otorhinolaryngological abnormalities: microsomia.
- Skeletal abnormalities: mandibular deformities, atrial septal defect and ventricular septal defects), and renal defects such as agenesis or multicystic kidneys.
- Other features: Small stature, delayed psychomotor development, intellectual disability (seen with cerebral developmental anomalies and microphthalmia), speech disorders and autistic behaviors
Treatment
Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, ocular dermoid debulking (see below), repairing cleft palate/lip, repairing heart malformations or spinal surgery. Some patients with Goldenhar syndrome will require assistance as they grow by means of
Epidemiology
Prevalence ranges from 1 in 3,500 to 8,500 births.[7]
Eponym
The condition was documented in 1952 by Belgian–American ophthalmologist Maurice Goldenhar (1924–2001).[8][9]
References
- ^ Zaka-ur-Rab Z, Mittal S (2007). "Optic Nerve Head Drusen in Goldenhar Syndrome" (PDF). JK Science. 9 (1): 33–34.[1]
- PMID 17100205.
- PMID 23723509.
- PMID 9408975.
- ^ Beleza-Meireles A, Clayton-Smith J, Saraiva JM, et alOculo-auriculo-vertebral spectrum: a review of the literature and genetic updateJournal of Medical Genetics 2014;51:635-645.
- ^ a b Bogusiak, K., Puch, A., & Arkuszewski, P. (2017). Goldenhar syndrome: current perspectives. World Journal of Pediatrics : WJP, 13(5), 405–415. https://doi.org/10.1007/s12519-017-0048-z
- S2CID 238532372.
- Who Named It?
- ^ M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. Journal de génétique humaine, Genève, 1952, 1: 243-282.