In addition to the antimongoloid slanting palpebral fissures in Treacher Collins Syndrome (TCS) the soft tissues surrounding the eye are typically hypoplastic with thin lower lid skin. Lid notching, or colobomas, have been reported as well as periorbital dermoids. The lid margin can have significant laxity and absence of lashes, particularly in the medial third of the lower lid, which is a pathognomonic finding. Lacrimal duct atresia and absence of puncta are also reported.
Antimongoloid slanting palpebral fissures
Last modified
2 January 2021
HPO
HP:0000494
ICPC
F81
Feature
When the nasal corners of the palpebral fissures (the elliptic space between the medial and lateral corners of the two open lids) are higher than the temporal...
Rare Condition
Treacher Collins Syndrome
Treacher Collins Syndrome is a genetic disorder characterized by hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of...
Disease