Treacher-Collins-Franceschetti syndrome

Epidemiology

• incidence of 1/50,000 live births

Pathology

• disorder of craniofacial development

Genetics

• autosomal dominant
• associated with defects in TCOF1

Clinical manifestations

• anomalies are bilaterally symmetrical
• abnormalities of the ears
  • atresia of the external ear canals
  • malformation of the middle ear ossicles
  • conductive hearing loss
• lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids
• hypoplasia of the mandible & zygomatic bone
• cleft palate

More general terms

• developmental disorder syndrome (multisystem disorder)

Additional terms

• Treacher-Collins syndrome 2
• treacle protein; treacher collins syndrome protein (TCOF1)

Database

• OMIM: https://mirror.omim.org/entry/154500