====== Goldenhar Syndrome ======
a.k.a oculo-auriculo-vetebral spectrum

====Main Features====
  * Anomalies of structures derived from the first and second bronchial arches
  * Hemifacial microsomia (facial asymmetry due to underdevelopment of the mandible and associated tissues)
  * Auricular anomalies
    * microtia
    * preauricular skin tags
    * atresia of external auditory canal
  * Conductive hearing loss
  * Vertebral defects 
    * hemivertebrae
    * fused vertebrae 

====Eye Findings====
  * Solid limbal (epibulbar) dermoids
  * Micropthalmia
  * [[duane_syndrome|Duane Syndrome]]
  * Lid colobomas or clefts
====Other Findings====
  * Facial nerve palsy ipsilateral to microtia
  * Cardiac defects
  * Kidney anomalies
  * One case of neuroblastoma
====Etiology====
  * Disruption of neural crest cell migration
  * Mostly sporadic, most do not have known genetic defects
  * rarely 7q21.11 deletion
  * occasional single gene-defects
====Resources====
  - [[https://pubmed.ncbi.nlm.nih.gov/35110414|Tingaud-Sequeira et al., "Oculo-Auriculo-Vertebral Spectrum: New Genes and Literature Review on a Complex Disease" (Journal of Medical Genetics. 2022;59(5):417-427]]
  - [[https://pubmed.ncbi.nlm.nih.gov/26068384/ |Puvabanditsin S. et al. "7q21.11 Microdeletion in a Neonate With Goldenhar Syndrome: Case Report and a Literature Review" Cleft Palate Cranifac J. 2016;53(2):249-52]]
  - [[https://jamanetwork.com/journals/jamaotolaryngology/fullarticle/509077?utm_source=openevidence&utm_medium=referral |Carvalho GJ et al. "Auditory and Facial Nerve Dysfunction in Patients With Hemifacial Microsomia."Archives of Otolaryngology--Head & Neck Surgery. 1999;125(2):209-12]]
  - [[https://pubmed.ncbi.nlm.nih.gov/14632345/|Michel-Adde C. et al. "Goldenhar syndrome and neuroblastoma: a chance association?" Acta Paediatr 2003;92(10):1223-5]]

{{tag>syndrome}}