CRANIOFACIAL MICROSOMIA; CFM
[for Professionals mainly]
Craniofacial microsomia (CFM) is an autosomal dominant disorder characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts, in addition to skeletal and cardiac abnormalities. Inter- and intrafamilial variability has been observed (Timberlake et al., 2021).

Hemifacial Microsomia with Radial Defects
Hodes et al. (1981) described a patient with many clinical features of Goldenhar syndrome and ipsilateral radial defect. She had plagiocephaly, abnormalities of the left ear, facial asymmetry, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, patent ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. She lacked dermoids of the eye and eyelid colobomata. Fibroblasts from the unaffected right arm showed trisomy 7 mosaicism, whereas those from the affected left arm showed a normal karyotype. Of note, the mother took birth control pills and antihistamines during the first trimester of pregnancy.

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 …

Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum)
[Support Groups]
Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine.

Sindrome de Goldenhar asociado a embarazo
REV CHIL OBSTET GINECOL 2004; 69(6): 464-466
[Spanish]
El sindrome de Goldenhar es una rara condicion, de aparicion esporadica, y con componente genetico debil. Se caracteriza por un espectro de malformaciones faciales, especialmente deformaciones oculares (ausencia o hipotrofia ocular) y malformaciones auriculares, que caracteristicamente comprometen una hemicara, con presencia o ausencia de anomalias vertebrales. Se presenta un caso clinico de la asociacion de Sindrome 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: 2023/04/03

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