Treacher-Collins syndrome 2

Pathology

• disorder of craniofacial development

Genetics

• associated with defects in POLR1D
  • (sununit of RNA polymerase 1 & RNA polymerase 3)

Clinical manifestations

• bilateral downward slanting of the palpebral fissures,
• colobomas of thelower eyelids withpaucity of eyelashes medial to the defect
• hypoplasia of the facial bones
• cleft palate
• malformation of the external ears
• atresia of the external auditory canals
• bilateral conductive hearing loss.

More general terms

• developmental disorder syndrome (multisystem disorder)

Additional terms

• Treacher-Collins-Franceschetti syndrome

Database

• OMIM: https://mirror.omim.org/entry/613717