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Learn About Goldenhar Disease

What is the definition of Goldenhar Disease?
Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the heart, lungs, kidneys, and central nervous system. It is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the first and second brachial arch. These structures will develop to form the neck and the head. The cause is still unknown. Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity.
What are the alternative names for Goldenhar Disease?
  • Goldenhar disease
  • Expanded spectrum hemifacial microsomia
  • Expanded spectrum of hemifacial microsomia
  • FAv sequence
  • Facioauriculovertebral dysplasia
  • Facioauriculovertebral sequence
  • Goldenhar syndrome
  • OAV dysplasia
  • OAVS
  • Oculoauriculovertebral dysplasia
  • Oculoauriculovertebral syndrome
Who are the top Goldenhar Disease Local Doctors?

Southern California Permanente Medical Group

5475 E La Palma Ave, 
Anaheim, CA 
 (7.0 mi)
Languages Spoken:
English

Christina Huckabay is a Family Medicine provider in Anaheim, California. Dr. Huckabay and is rated as an Experienced provider by MediFind in the treatment of Goldenhar Disease. Her top areas of expertise are Type 2 Diabetes (T2D), Cytochrome P450 Oxidoreductase Deficiency, Goldenhar Disease, and Orofaciodigital Syndrome Type 2.

Plastic Surgery
Plastic Surgery

Regents Of The University Of California

9350 Campus Point Dr, 
La Jolla, CA 
 (77.2 mi)
Languages Spoken:
English

Amanda Gosman is a Plastic Surgeon in La Jolla, California. Dr. Gosman and is rated as an Experienced provider by MediFind in the treatment of Goldenhar Disease. Her top areas of expertise are Craniosynostosis, Metopic Ridge, Plagiocephaly, Osteotomy, and Bone Graft.

 
 
 
 
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Family Medicine
Family Medicine

Health Service Alliance

5050 San Bernardino St, 
Montclair, CA 
 (20.9 mi)
Languages Spoken:
English

James Lally is a Family Medicine provider in Montclair, California. Dr. Lally and is rated as an Experienced provider by MediFind in the treatment of Goldenhar Disease. His top areas of expertise are Costochondritis, Tietz Syndrome, End-Stage Renal Disease (ESRD), Endoscopy, and Hip Replacement.

What are the latest Goldenhar Disease Clinical Trials?
Supplementation of Autologous Fat Grafts with Curcumin Preconditioned Adipose-Derived Stem Cells in the Treatment of Facial Contour Deformities

Summary: The aim of this study is to evaluate the comparison of therapeutic potential of curcumin preconditioned adipose derived stem cells (ASCs) enrichment fat grafting, naïve ASCs enrichment fat grafting and conventional fat grafting to correct facial contour deformities that cause aesthetic complications in patients.

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Published Date: May 10, 2022
Published By: Genetic and Rare Diseases Informnation Center