Table 3.

Scoring Systems to Rate Severity of Clinical Findings

FeaturePoints Assigned 1
Teber et al [2004] Vincent et al [2016]
Downward-slanting palpebral fissures21
Malar hypoplasia / hypoplasia of zygomatic complex21
Conductive hearing loss12
Mandibular hypoplasia / micrognathia21
Atresia of external ear canal11
Microtia21
Coloboma (notching) of the lower lid21
Delayed speech developmentNot assignedNot assigned
AsymmetryNot assigned1
Preauricular hair displacement11
Nasogastric tube or gastrostomy in neonatesNot assigned2
Cleft palate11
Intubation or tracheostomy in neonates12
Choanal stenosis/atresia12
Cardiac malformationNot assignedNot assigned
Rachis malformationNot assignedNot assigned
Renal malformationNot assignedAtypical
MicrocephalyNot assignedAtypical
Intellectual disability / delayed motor development1Atypical
Limb anomalyNot assignedAtypical
Total Points
1.

Maximum score is 17 for both systems. Scores ≤8 = mildly affected; scores ≥9 = severely affected.

From: Treacher Collins Syndrome

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