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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.
Related
Treacher-Collins-Franceschetti syndrome
General
developmental disorder syndrome (multisystem disorder)
Database Correlations
OMIM 613717
References
OMIM :accession 613717