- Goldenhar syndrome
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Goldenhar syndrome Classification and external resources ICD-10 Q87.0 OMIM 164210 DiseasesDB 31292 MeSH D006053 Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.[1] Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus.[2]
The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ/verterbrae disruption.
It affects between 1/3500 to 1/26000 live births in the UK.[citation needed]
Contents
Eponym
The condition was documented in 1952 by Maurice Goldenhar (1924-2001).[3][4]
Symptoms
Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilst 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).
Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes).Deafness/blindness in one or both ears/eyes.
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.
An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested but the difference was shown to be statistically insignificant.[5]
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, occular dermoid debulking, repairing cleft palate/lip, repairing heart malformations, spinal surgery. Hearing aids placed in one or both ears.
Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.
References
- ^ Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S (2006). "Clinical manifestations in 17 Greek patients with Goldenhar syndrome". Genet. Couns. 17 (3): 359–70. PMID 17100205.
- ^ Zaka-ur-Rab Z, Mittal S, (2007). "Optic Nerve Head Drusen in Goldenhar Syndrome". JK Science 9 (1): 33–34. http://www.jkscience.org/archive/volume91/jk1.pdf.
- ^ synd/2300 at 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.
- ^ Araneta MR, Moore CA, Olney RS et al. (1997). "Goldenhar syndrome among infants born in military hospitals to Gulf War veterans". Teratology 56 (4): 244–251. doi:10.1002/(SICI)1096-9926(199710)56:4<244::AID-TERA3>3.0.CO;2-Z. PMID 9408975.
External links
- Goldenhar UK Support Group
- FACES: The National Craiofacial Association - Assisting children and adults with facial differences due to birth defects, trauma, or cancer
- Changing Faces - A UK based charity working with facial disfigurement
- Cleft Lip and Palate Foundation of Smiles - Helping patients and families born with craniofacial differences and related syndromes
Congenital abnormality · multiple abnormalities (Q87, 759.7) Craniofacial Short stature 1q21.1 deletion syndrome · Aarskog–Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver–Russell syndrome · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndromeLimbs Overgrowth Laurence-Moon-Bardet-Biedl Combined/other,
known locus3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome)Categories:- Congenital disorders
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