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Goldenhar Syndrome. Presented by Lori Kingsbury & Jennifer Klundt DCOM 732 Craniofacial Anomalies Summer 2010. Goldenhar Syndrome. AKA Oculo - auriculo -vertebral dysplasia (OAV) First described in 1952 by Maurice Goldenhar

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goldenhar syndrome

Goldenhar Syndrome

Presented by Lori Kingsbury & Jennifer Klundt

DCOM 732 Craniofacial Anomalies

Summer 2010

goldenhar syndrome1
Goldenhar Syndrome
  • AKA Oculo-auriculo-vertebral dysplasia (OAV)
  • First described in 1952 by Maurice Goldenhar
  • Associated with anomalous development of the first branchial arch and second branchial arch
  • Etiology is unclear; one possible etiology suggested is that there seems to be a deficiency in mesodermal formation or defective interaction between neural crest and the mesoderm.
  • Some factors are believed to be related to the development of the disease. These may include:
    • Drug ingestion (cocaine, thalidomide, retinoic acid and tamoxifen)
    • Environmental factors (insecticides and herbicides)
    • Maternal diabetes
  • 1 in 5,000 – 25,000 live births
  • Male prevalence
  • Most cases are sporadic
  • 1-2% of cases report autosomal dominant transmission
  • A few families consistent with autosomal recessive have been reported
unique characteristics
Unique Characteristics
  • Usually characterized by unilateral triad of craniofacial microsomia, ocular dermoid cysts and spinal abnormalities
eye defects
Eye defects
  • Ocular anomalies occur in about 50% of cases (epibulbardermoid and lipodermoid are most common)
ear defects
Ear defects
  • Auricular defects are reported in 65% of cases (preauricular tags, microtia, anotia, conductive hearing loss
vertibral defects
Vertibral defects
  • Vertibralanomolies including absence of vertibrae, hemivertebrae, fused ribs, kyphosis & scoliosis.
physical signs symptoms
Physical Signs/Symptoms
  • Unilateral or bilateral Hemifacialmicrosomia (HFM)
  • Microtia; chin may be closer to the affected ear
  • Micrognathia
  • Facial clefting
  • Cleft lip/palate
  • Hearing loss
  • Missing eye or benign growths of the eye
other health issues
Other Health Issues
  • Heart, kidney, and lung problems are also common in individuals with Goldenhar syndrome. These typically involve one side of the organ being underdeveloped or missing.
speech language characteristics
Speech/Language Characteristics

Highly Variable

  • Language problems – associated with hearing loss
  • Speech problems –tongue shape, jaw shape and mobility, weakness or difficulty moving side that is smaller
  • Hyponasality – clefting of lip and/or palate
  • Swallowing problems – lack of saliva, tongue shape or use
  • Abnormal airways
  • No Genetic Test
  • Through identification of physical anomalies
  • Appearance, Skeletal Formations, Hearing Deficits
  • Professionals in pediatric medicine, radiology, ophthalmology, otolaryngology, odontology, and neurology contribute to the diagnosis
  • Lowering of jaw on affected side
  • Lengthening jaw
  • Addition of bone to build up cheeks
  • Soft tissue may be added to face
  • 3 to 4 operations to rebuild ear
  • Treatment of hearing loss or deafness
  • Speech therapy
  • Managing feeding problems
  • Orthodontics
  • Treating associated problems like heart or kidney issues


Normal Lifespan Normal Intelligence

multiple choice exam questions
Multiple Choice Exam Questions

Question #1

Goldenhar Syndrome is characterized by:

  • A. Craniofacial microsomia
  • B. Ocular dermoid cysts
  • C. Spinal abnormalities
  • D. All of the above
multiple choice exam questions1
Multiple Choice Exam Questions

Question #2

Which of the following is NOT a characteristic of Goldenhar Syndrome?

  • A. Microtia
  • B. Facial Clefting
  • C. Macrognathia
  • D. Hearing loss
multiple choice exam questions2
Multiple Choice Exam Questions

Question #3

Which of the following is NOT a treatment associated withGoldenhar Syndrome?

  • A. Plastic Surgery
  • B. Aural Rehabilitation
  • C. Behavior Modifications
  • D. Managing Feeding Issues