1. Background

• also called Mandibulofacial Dysostosis, Franceschetti-Klein Syndrome, and Franceschetti Syndrome
• first case reported by A. Thomson in 1846
• two cases reported by E. Treacher Collins in 1900
• called Mandibulofacial Dysostosis by Franceschetti and Klein in 1940

2. Pathogenesis

• between 50-60% of cases represent de novo mutations
• there may be an autosomal recessive form

1. Facial Manifestations

• downward slanting palpebral fissures (89%)
• malar hypoplasia (sunken cheekbones) - 81%
• mandibular hypoplasia (receding chin, micrognathia) - 78%
• microtia (malformation of the auricles) - 77%
• lower eyelid coloboma (fissure or gap) - 69%
• partial or total absence of the lower eyelashes medial to the coloboma ( 53%)
• hearing loss (conductive or sensorineural) - 40%
• visual loss (37%)
• external ear canal defect (36%)
• cleft palate (28-35%)
• projection of scalp hair onto the lateral cheek (26%)
• others:
  • deformed pinnas
  • blind fistulas appearing between the corners of the mouth and the ears
  • dental malocclusion
  • widely-spaced, hypoplastic and/or displaced teeth
  • unilateral or bilateral macrostomia

2. Complications

• respiratory difficulties (upper airway obstruction, obstructive sleep apnea) due to midface and mandibular hypoplasia
• feeding difficulties in the newborn period
• deafness
• visual loss due to refractive errors, anisometropia, strabismus, and/or ptosis

1. Skull X-Rays

• mandibular hypoplasia
• hypoplasia of the zygomatic arch

1. Supportive

• multidisciplinary approach
  • Paediatrics, ENT, Denistry, Ophthalmology, Plastic Surgery
  • genetic counselling
  • hearing aids if indicated

2. Prognosis

• normal life span
• normal intelligence

1. Baraitser, M. and R.M. Winter, Color Atlas of Congenital Malformation Syndromes (1st Ed.). p. 41-42. (1996).

2. Jones, K.L., Smith's Recognizable Patterns of Human Malformation (5th Ed.). p. 250-251. (1997).