Revised Dysmorphology Scoring System (Based on Quantitative Analysis of Growth Restriction and Minor Anomalies in 370 Children With FAS)

FeatureNo. AffectedScore
OFC ≤10%3543
Growth deficiency
 Height ≤10%3272
 Weight ≤10%3221
Short PFL (≤10%)3133
Smooth philtrum3073
Thin vermilion2933
Hypoplastic midface2162
Epicanthal folds2042
Decreased IPD/ICD (≤25%)202/1042
Flat nasal bridge1792
Altered palmar crease1732
5th finger clinodactyly1492
Long philtrum (≥90%)1222
Anteverted nares1182
“Railroad track” ears571
Heart murmur/confirmed CHD50/61
Limited elbow supination311
Hypoplastic nails231
Total possible score41
  • CHD, congenital heart disease; ICD, intercanthal distance; IPD, interpupillary distance; OFC, occipitofrontal (head) circumference; PFL, palpebral fissure length.

  • The Revised Dysmorphology Score was derived from analysis of growth and structural data from 370 children with full-blown FAS. The subjects were among the international cohort of children examined by the dysmorphology experts (HEH, MAM, LKR, MPA, OAR, TJ, KLJ) involved in NIAAA-supported CIFASD and CoFASP studies. The children were examined blindly by the investigators as part of school-based epidemiology studies of children in grade 1 (ages 5–8). Interexaminer agreement on anthropometric measures was high (Cronbach’s α scores ranged from 0.975 to 0.855 for craniofacial assessment items).

  • The cardinal diagnostic features (small head circumference, growth restriction [height and weight combined], short palpebral fissures, smooth philtrum, and thin vermilion border of the upper lip) were assigned a score of 3. Other features observed in ≥100 children were assigned a score of 2. Features observed in <100 children received a score of 1. The score provides an objective method of quantifying dysmorphic features and comparing the structural phenotype of FASD among affected children; it is not used in assigning FASD diagnoses. However, compilation of the minor anomalies cataloged in the score is useful in differentiating children with FASD from genetic and teratogenic phenocopies (Table 5).

  • This supplants the original scoring system that was based on the authors’ subjective analysis of the frequency of minor anomalies associated with FASD.4