Oculoauriculovertebral Dysplasia
Victor A. McKusick, OMIM, Johns Hopkins University, November 26, 2007
 [for Professionals mainly]
The features are unilateral deformity of the external ear and small ipsilateral half of the face with epibulbar lipodermoid
and vertebral anomalies. Coloboma of the upper eyelid is frequent. The ear deformities range from preauricular tags of
cartilagenous masses, to atresia of the external auditory canal, anomalies in the size and shape of the external auricle,
and even to anotia … most cases are sporadic and a few families consistent with autosomal recessive inheritance have been
reported, other families clearly support autosomal dominant inheritance … described a kindred with 9 affected persons in 3
generations and 3 instances of male - to - male transmission … Soltan and Holmes (1986) suggested a link between genetic
causes and vascular disruption … Setzer et al. (1981) reported 2 pairs of discordant monozygotic twins and an instance of
affected mother and son and mother's sister. They suggested genetic heterogeneity. Discordant monozygotic twins were
reported by Burck (1983) … Connor and Fernandez (1984), who considered hemifacial microsomia to be identical with Goldenhar
syndrome, reported discordant monozygotic twins … Some 20 twin pairs in all have been reported in which at least 1 member
exhibited the features of Goldenhar syndrome. All of the 5 monozygotic twin pairs for which placental information was
available have been discordant and 2 of these had dichorionic membranes …
Crabuifacuak Nucrisinua
Douglas D. Backouos, M.D., Baylor College of Medicine, February 7, 2006
[for Professionals mainly] [Support Groups]
… a spectrum of morphogenetic abnormalities involving structures derived from the first and second branchial arches … second most
common facial birth defect after cleft lip and palate. Fourteen terms describing this malformation complex can be found in the
literature including First and Second Branchial Arch Syndrome, Hemifacial Microsomia, and Goldenhar - Gorlin Syndrome. Goldenhar
Syndrome is now considered a variant of craniofacial microsomia … Craniofacial Microsomia has an incidence reported between 1/3500
to 1/26, 550 live births. The male and female and right to left sided ratios are both 3:2. Bilateral involvement occurs in roughly
ten percent of cases … in 1973, Poswillo attributed the development of facial deformities consistent with craniofacial microsomia to
disruption of the stapedial artery … Robinson in 1987 supported Poswillo's theory by demonstrating carotid flow abnormalities in two
and defects related to vascular disruption in a third child with craniofacial microsomia … Treatment of craniofacial microsomia is individualized …
Hemifacial Microsomia with Radial Defects
Victor A. McKusick, OMIM, Johns Hopkins University, May 14, 2007
Gene Map Locus: 7p …
The left side of the face is affected in a majority of cases of hemifacial microsomia … The disorder may be basically the same
(thomas, 1980) as the Goldenhar syndrome … which lacks the limb anomaly. Hemifacial microsomia with radial limb defects may be
a distinct entity. Moeschler and Clarren (1982) described a young girl with oral cleft, multiple preauricular ear tags and pits,
and skin tags along the mandibular angle, all on the right side … Clarren (1982) also reported 2 sporadic cases; … Hodes et al.
(1981) described a patient with Goldenhar syndrome and ipsilateral radial defect, in whom fibroblasts from the affected right arm
showed trisomy 7 mosaicism whereas those from the unaffected left arm showed a normal karyotype …
Goldenhar Syndrome (Emphasis on the unborn)
Philippe Jeanty, MD, PhD, et al. TheFetus.net, December 28, 2000
[for Professionals mainly] [Illustrated] "not for the faint of heart"
Definition: This syndrome associated hemifacial microsomia, epibulbar dermoids, pre - auricular appendages, transverse facial clefts,
asymmetry of skull and vertebral anomalies (vertebral segmentation errors) ...
Incidence: 0.2:10,000 ... Etiplogy: Probably sporadic … Recurrence risk: Probably none … Diagnosis:
facial asymmetry … in association
with unilateral microphtlamlmia … cardiac or urinary anomalies … or lipoma of the corpus callosum … Asymmetry of the face with hypoplasia
of the left side and cleft …
Department of Defence Goldenhar Syndrome Study
Maria Rosario G. Araneta, Ph.D., M.P.H. et al., DefenseLink U.S. Department of Defense, December 1, 1997
… from the Naval Health Research Center and collaborators from the Centers for Disease
Control and Prevention was published Dec. 1 in the scientific journal "Teratology." … initiated in October 1995 in response to Gulf War
veterans' concerns about a possible excess of Goldenhar syndrome among their infants. Goldenhar syndrome is a rare birth defect
characterized by eye, jaw, and spine malformations. The study included 75,414 infants who were conceived after the Gulf War and were
born in military hospitals prior to October 1, 1993. The rate of the syndrome among infants of Gulf War veterans was 14.7 per 100,000
(five cases in 34,069 infants), compared to a rate of 4.8 per 100,000 among infants of veterans who did not deploy to the Gulf (two cases
in 41,345 infants). However, this result is inconclusive. Because of the small number of cases (seven) …
Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum)
National Organization for Rare Disorders, Inc. (NORD), 12, 10 2007
[Support Groups]
It is possible that Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum) may not be the name that you expected. Your physician may have
given you another name for this disease. Please check the synonyms listed below to find other names for this specific disorder.
… Although in most cases, such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals
have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the
majority of such cases, the right side is more severely affected than the left … In most cases, Goldenham Syndrome (OAV Spectrum) appears to
occur randomly, with no apparent cause (sporadic) ...
Displasia óculo-aurículo-vertebral o síndrome de Goldenhar
Acta Estrabológica 2006 - Volumen XXXV - N.º 3 - Septiembre-Diciembre
[Spanish]
El síndrome de Goldenhar o displasia óculo-aurículo-vertebral es un raro trastorno congénito de aparición esporádica. Entre el 1 y el 2 % de los casos presentan una herencia autosómica dominante. Se caracteriza por un espectro de malformaciones faciales especialmente deformaciones oculares y auriculares. Pueden asociarse anomalías vertebrales, cardíacas, pulmonares, neurológicas, genitourinarias ...
Síndrome de Goldenhar asociado a embarazo
REV CHIL OBSTET GINECOL 2004; 69(6): 464-466
[Spanish]
El síndrome de Goldenhar es una rara condición, de aparición esporádica, y con componente genético débil. Se caracteriza por un espectro de malformaciones faciales, especialmente deformaciones oculares (ausencia o hipotrofia ocular) y malformaciones auriculares, que característicamente comprometen una hemicara, con presencia o ausencia de anomalías vertebrales. Se presenta un caso clínico de la asociación de Síndrome de Goldenhar y embarazo ...
Oculo Auriculo Vertebral Dysplasia
I.B.I.S. Birth Defects, February 5, 2002
[Ukrainian]
Factsheet in Ukrainian
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Last Updated: 2008/3/3
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