The respiratory system of a child with Treacher Collins syndrome is the primary concern at birth, with other issues only addressed once respiratory function has been stabilized. Underdevelopment of the zygomatic bone gives the cheeks a sunken appearance.The external ear is sometimes small, rotated, malformed, or absent entirely in people with TCS. Symmetric, bilateral narrowing or absence of the external ear canal, is also described. In most cases, the bones of the middle ear and the middle ear cavity are misshapen. Inner ear malformations are rarely described. As a result of these abnormalities, a majority of the individuals with TCS have conductive hearing loss.Most affected people also experience eye problems, including coloboma (notches) in the lower eyelids, partial or complete absence of eyelashes on the lower lid, downward angled eyelids, drooping of upper and lower eyelids, and narrowing of the tear ducts. Vision loss can occur and is associated with strabismus, refractive errors, and anisometropia. It can also be caused by severely dry eyes, a consequence of lower eyelid abnormalities and frequent eye infections.Although an abnormally shaped skull is not distinctive for Treacher Collins syndrome, brachycephaly with bitemporal narrowing is sometimes observed. Cleft palate is also common.Dental anomalies are seen in 60% of affected people, including tooth agenesis (33%), discoloration (enamel opacities) (20%), malplacement of the maxillary first molars (13%), and wide spacing of the teeth. In some cases, dental anomalies in combination with mandible hypoplasia result in a malocclusion.
The lactiferous duct should be normal without any retraction.Inverted nipple grade 2 is the nipple which can be pulled out, though not as easily as the grade 1, but which retracts after pressure is released. Breast feeding is usually possible, though it is more likely to be hard to get the baby to latch comfortably in the first weeks after birth; extra help may be needed. Grade 2 nipples have a moderate degree of fibrosis. The lactiferous ducts are mildly retracted, but do not need to be cut for the release of fibrosis. On histological examination, these nipples have rich collagenous stromata with numerous bundles of smooth muscle. Inverted nipple grade 3 describes a severely inverted and retracted nipple which can rarely be pulled out physically and which requires surgery to be protracted. Milk ducts are often constricted, and breast feeding is difficult, but not necessarily impossible. With good preparation and help, babies often can drink at the breast, and milk production is not affected; after breastfeeding, nipples often are less or no longer inverted. Women with grade-3 inverted nipples may also struggle with infections, rashes, or problems with nipple hygiene. The fibrosis is remarkable and lactiferous ducts are short and severely retracted. The bulk of soft tissue is markedly insufficient in the nipple. Histologically, atrophic terminal duct lobular units and severe fibrosis are seen. Pregnancy and breastfeeding
Women with inverted nipples may find that their nipples protract (come out) temporarily or permanently during pregnancy, or as a result of breastfeeding.