Franceschetti syndrome (franceschetti-zwahlen-k1ein syndrome; treacher collins syndrome; mandibulofacial dysostosis; mandibulofacial syndrome; eyelid-malar-mandible syndrome; oculovertebral syndrome; berry syndrome; franceschetti-zwahlen syndrome; zwahlen syndrome; bilateral facial agenesis; berry-franceschetti-k1ein syndrome; franceschetti-k1ein syndrome; franceschetti syndrome (ii); treacher collins-franceschetti syndrome; weyers-thier syndrome) 4

General: Irregular dominant inheritance; Weyers-Thier syndrome has similar features, except it is a unilateral variant; prevalent in Caucasians.

Ocular: Microphthalmia; oblique position of eyes with lateral downward slope of palpebral fissures; temporal lower lid coloboma; lack of cilia on middle third of lower lid; iris coloboma; underdeveloped orbicularis oculi muscle; cataract; optic disk hypoplasia.

Clinical: Fishlike face with sunken cheek bones, receding chin, and large, wide mouth; absent or malformed external ears with auricular appendages; high palate and possible harelip; hypoplastic zygomatic arch with absence of normal malar eminences; prolonged hairline on the cheek; deafness; micrognathia; glossoptosis; cleft palate.

Berry GA. Note of congenital defect (coloboma) of lower lid. Lond Ophthalmol Hosp Rep 1889; 12:255-277.

Collins ET. Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones. Trans Ophthalmol Soc UK 1900; 20:190.

Franceschetti A, Klein D. Mandibulo-facial dysostosis: new hereditary syndrome. Acta Ophthalmol 1949; 27:143.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Jabs EW, et al. Chromosomal deletion 4p15.32-p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics 1991; 11:188-l92.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Rogers BO. The surgical treatment of mandibulofacial dysostosis (Berry syndrome; Treacher Collins syndrome; Franceschetti-Zwahlen-Klein syndrome). Clin Plast Surg 1976; 3:653-666.