Mandibulofacial Dysostosis (Treacher Collins Syndrome) Differential Diagnoses

Updated: Jan 20, 2023
  • Author: Marie M Tolarova, MD, PhD, DSc; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations

Consider the following 3 conditions in the differential diagnoses of mandibulofacial dysostosis (Treacher Collins syndrome):

  • Acrofacial dysostosis, type Nager (preaxial acrofacial dysostosis) is associated with facial features nearly identical to those of Treacher Collins Syndrome. The cleft palate is more frequent, and mandibular growth is usually more severely affected. Lower-lid colobomas are rare. The radial rays are affected, and patients may present with hypoplastic or absent thumbs, radioulnar synostosis, and/or radius and 1 or more metacarpal bones that are hypoplastic or absent. Preaxial acrofacial dysostosis, also known as Nager syndrome, is genetically heterogenous. Autosomal dominant and autosomal recessive patterns have been suggested. Gorlin pointed out that apparent recessive inheritance could represent a nonpenetrance or a gonadal mosaicism. [2]

  • Oculoauriculovertebral spectrum, including Goldenhar syndrome, should not create a diagnostic problem when the full spectrum is present. The phenotype consists of epibulbar dermoids of the eye, preauricular tags, vertebral defects, and facial underdevelopment. [28] Closely examine minimal expression and, if possible, also examine first-degree relatives.

  • X-linked dominant maxillofacial dysostosis consists of bilateral hypoplasia of malar bones, downward-slanting palpebral fissures without colobomas, maxillary hypoplasia, open bite, and relative mandibular prognathism.