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Syndromes with craniofacial abnormalities

Edward P Buchanan, MD
Larry H Hollier, Jr, MD
Section Editors
Leonard E Weisman, MD
Helen V Firth, DM, FRCP, DCH
Deputy Editor
Elizabeth TePas, MD, MS


Interruption of normal embryologic growth and differentiation of the face and skull results in a wide variety of craniofacial abnormalities. Craniofacial surgery, which consists of reconstruction of the cranial vault and/or facial skeleton with or without simultaneous soft tissue reconstruction, can be performed when these deformities interfere with physical and/or mental wellbeing.

Specific syndromes in which craniofacial abnormalities are the primary feature will be reviewed here. The pathogenesis, diagnosis, and surgical management of craniosynostosis, a subset of craniofacial anomalies, and syndromes in which craniosynostosis is a primary abnormality, are discussed separately. (See "Overview of craniosynostosis" and "Craniosynostosis syndromes".)


Craniofacial microsomia (CFM), also referred to as hemifacial microsomia, oculo-auriculo-vertebral spectrum, or first and second branchial arch syndrome, is a sporadically acquired association of anomalies that results from a defect in development of the first and second branchial arches (figure 1 and figure 2) [1-3]. It is sometimes associated with vertebral and/or ocular anomalies. Goldenhar syndrome appears to be part of this spectrum (MIM #164210) [4,5]. The disorder occurs in approximately 1 in 5500 live births [6]. It is typically sporadic [7], but autosomal dominant inheritance has been reported [8,9].

The mechanism underlying CFM is uncertain. A vascular insult to the developing branchial arches is the most widely accepted explanation. In an animal model, hemorrhage induced in the region of the first and second branchial arches produced the characteristic facial features. The degree of abnormality was proportional to the size of the hematoma [10].

Clinical features of CFM — The stigmata of this disorder are indicated by the acronym OMENS, for orbit, mandible, ear, facial nerve, soft tissue [11,12]. Orbital distortion is typically present, as is mandibular hypoplasia. Ear anomalies include microtia, accessory preauricular tags and/or pits, and middle ear defects with hearing impairment (picture 1) [2]. Facial nerve involvement leads to hypoplasia of the facial muscles. Soft tissue deficiency, such as profound hypoplasia or absence of the parotid gland and masticatory muscles (temporalis, masseter), may be present.


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Literature review current through: Sep 2016. | This topic last updated: Oct 18, 2016.
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