Table 2.

Classic Features of Treacher Collins Syndrome

Classic Feature% (n) of Affected Individuals w/Feature
Vincent et al [2016] Teber et al [2004] Splendore et al [2000]
Very
frequent 		Downward-slanting palpebral fissures99% (76/77)100% (35/35)89%
Malar hypoplasia / hypoplasia of zygomatic complex97% (76/78)97% (34/35)81%
Conductive hearing loss92% (69/75)83% (25/30)
Mandibular hypoplasia / micrognathia88% (69/78)91% (32/35)78%
Frequent Atresia of external ear canal71% (46/65)68% (23/34)
Microtia70% (55/79)71% (25/35)77%
Coloboma (notching) of the lower lid63% (46/73)54% (19/35)69%
Delayed speech development57% (16/28)
Asymmetry52% (34/65)
Preauricular hair displacement49% (25/51)24% (8/33)
Rare Nasogastric tube or gastrostomy in neonates28% (17/60)
Cleft palate21% (15/70)33% (11/33)28%
Intubation or tracheostomy in neonates18% (12/65)12% (4/34)
Choanal stenosis/atresia13% (8/64)25% (8/32)
Cardiac malformation11% (7/65)
Very rare Rachis malformation7% (3/42)
Renal malformation4% (2/50)
Microcephaly3% (2/66)
Intellectual disability / delayed motor development1.7% (1/58)10% (3/30)
Limb anomaly1.5% (1/67)

From: Treacher Collins Syndrome

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