Goldenhar SyndromePresented by Lori Kingsbury & Jennifer

KlundtDCOM 732 Craniofacial Anomalies

Summer 2010

Goldenhar SyndromeAKA Oculo-auriculo-vertebral

dysplasia (OAV) First described in 1952 by

Maurice GoldenharAssociated with anomalous

development of the first branchial arch and second branchial arch

EtiologiesEtiology 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

Prevalence•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 CharacteristicsUsually characterized by unilateral triad of

craniofacial microsomia, ocular dermoid cysts and spinal abnormalities

Eye defectsOcular anomalies occur in about 50% of

cases (epibulbar dermoid and lipodermoid are most common)

Ear defectsAuricular defects are reported in 65% of

cases (preauricular tags, microtia, anotia, conductive hearing loss

Vertibral defectsVertibral anomolies including absence of

vertibrae, hemivertebrae, fused ribs, kyphosis & scoliosis.

Facial Features

Physical Signs/SymptomsUnilateral or bilateral Hemifacial microsomia

(HFM)Microtia; chin may be closer to the affected

earMicrognathiaFacial cleftingCleft lip/palateHearing lossMissing eye or benign growths of the eye

Other Health IssuesHeart, 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 Highly VariableLanguage problems – associated with hearing

lossSpeech 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

DiagnosisNo 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

TreatmentLowering 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

TreatmentTreatment of hearing loss or deafness

Speech therapy

Managing feeding problems

Orthodontics

Treating associated problems like heart or kidney issues

Prognosis

VERY GOOD

Normal Lifespan Normal Intelligence

Videoshttp://www.youtube.com/watch?v=YctDsa

VLLLY&feature=youtube_gdatahttp://www.youtube.com/watch?v=hkSyKk

q9fmshttp://www.youtube.com/watch?v=zWz06

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Referenceshttp://www.ccakids.com/Syndrome/Hemifacia

lMicrosomia.pdfhttp://www.healthline.com/galecontent/golde

nhar-syndromehttp://www.orpha.net/consor/cgi-bin/oc_Exp.p

hp?Lng=GB&Expert=374http://righthealth.com/topic/Goldenhar_Syndr

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Multiple Choice Exam QuestionsQuestion #1 Goldenhar Syndrome is characterized by:

A. Craniofacial microsomiaB. Ocular dermoid cystsC. Spinal abnormalitiesD. All of the above

Multiple Choice Exam QuestionsQuestion #2Which of the following is NOT a characteristic

of Goldenhar Syndrome?A. MicrotiaB. Facial CleftingC. MacrognathiaD. Hearing loss

Multiple Choice Exam QuestionsQuestion #3Which of the following is NOT a treatment

associated with Goldenhar Syndrome?A. Plastic SurgeryB. Aural RehabilitationC. Behavior ModificationsD. Managing Feeding Issues