Hemifacial microsomia syndrome (unilateral facial agenesis; otomandibular dysostosis; francois-haustrate syndrome)

General: No inheritance pattern; left side of face seems to be more frequently involved; facial asymmetry usually most obvious finding; both sexes affected; alteration of intrauterine environment is possible cause.

Ocular: Microphthalmos; congenital cystic ophthalmia; enophthalmos; strabismus; cataract; colobomata of iris, choroid, and retina.

Clinical: Microtia; macrostomia; failure of development of mandibular ramus and condyle; external auditory meatus may be absent; single or numerous ear tags; hypoplasia of facial muscles unilaterally; pulmonary agenesis (ipsilateral side); associated with Goldenhar syndrome.

Francois J, Haustrate L. Anomalies Colobomateuses du Globe Oculaire et Syndrome du Premier arc. Ann Ocul 1954; 187:340.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Kobrynski L, et al. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am J Med Genet 1993; 46:68-71.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.