Goldenhar syndrome

Goldenhar syndrome
Classification and external resources
Specialty medical genetics
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/vertebrae disruption.

It affects between 1/3,500 to 1/26,000 live births, with a male:female ratio of 3:2.[3]

Eponym

The condition was documented in 1952 by Belgian ophthalmologist Maurice Goldenhar (1924-2001).[4][5]

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 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).

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, Granulosa cell tumors may be associated as well.

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.[6]

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 hearing aids or glasses.

Stem cell grafting (womb tissue grafting) has been successfully used to "reprogram" eye dermoids, effectively halting the regrowth of eye dermoids. These tissues that grow on the eye are "mis-programmed" cells (sometimes tooth or nail cells instead of eye cells).

References

  1. ↑ 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.
  2. ↑ Zaka-ur-Rab Z, Mittal S (2007). "Optic Nerve Head Drusen in Goldenhar Syndrome" (PDF). JK Science. 9 (1): 33–34.
  3. ↑ Sudarshan P Gaurkar; Khushboo D Gupta; Kirti S Parmar & Bela J Shah. "Goldenhar Syndrome: A Report of 3 Cases". Indian Journal of Dermatology. Retrieved 11 May 2015.
  4. ↑ synd/2300 at Who Named It?
  5. ↑ 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.
  6. ↑ 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.
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