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 Associated with anomalous development of the first branchial arch and second branchial arch

Etiologies 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

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 Characteristics Usually characterized by unilateral triad of craniofacial microsomia, ocular dermoid cysts and spinal abnormalities

Eye defects Ocular anomalies occur in about 50% of cases (epibulbar dermoid and lipodermoid are most common)

Ear defects Auricular defects are reported in 65% of cases (preauricular tags, microtia, anotia, conductive hearing loss

Vertibral defects Vertibral anomolies including absence of vertibrae, hemivertebrae, fused ribs, kyphosis & scoliosis.

Facial Features

Physical Signs/Symptoms Unilateral or bilateral Hemifacial microsomia (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 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 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

Diagnosis 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

Treatment 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 Can be very complex because there are so many aspects to deal with. Again it depends on the severity of the condition.

Treatment Treatment of hearing loss or deafness Speech therapy Managing feeding problems Orthodontics Treating associated problems like heart or kidney issues

Normal Lifespan Normal Intelligence Prognosis VERY GOOD Normal Lifespan Normal Intelligence 15% show a developmental delay or learning difficulties related to the language problems that stem form the hearing loss, but most demonstrate normal intelligence

Videos http://www.youtube.com/watch?v=YctDsaVLLLY&feature=youtube_gdata http://www.youtube.com/watch?v=hkSyKkq9fms http://www.youtube.com/watch?v=zWz06w4Cerl

References http://www.ccakids.com/Syndrome/HemifacialMicrosomia.pdf http://www.healthline.com/galecontent/goldenhar-syndrome http://www.orpha.net/consor/cgi-bin/oc_Exp.php?Lng=GB&Expert=374 http://righthealth.com/topic/Goldenhar_Syndromes

Multiple Choice Exam Questions Goldenhar Syndrome is characterized by: A. Craniofacial microsomia B. Ocular dermoid cysts C. Spinal abnormalities D. All of the above

Multiple Choice Exam Questions Which of the following is NOT a characteristic of Goldenhar Syndrome? A. Microtia B. Facial Clefting C. Macrognathia D. Hearing loss

Multiple Choice Exam Questions Which of the following is NOT a treatment associated with Goldenhar Syndrome? A. Plastic Surgery B. Aural Rehabilitation C. Behavior Modifications D. Managing Feeding Issues