2016 Dysmorphology Scoring System of Hoyme et al for Fetal Alcohol Spectrum Disorders (FASD)

Patient selection: child being evaluated for a fetal alcohol spectrum disorder (FASD)

 

Changes:

(1) 2 items removed: attention-deficit hyperactivity disorder, fine motor function

(2) 4 items added: IPD/ICD, strabismus, hypoplastic nails, prognathism

(3) 9 items given different points

(4) elbow changed to supination only

(5) growth deficiency items changed from < 10% to <= 10%

(6) hirsutism changed to hypertrichosis

(7) palmar creases changed from "hockey stick" to altered

 

Parameters:

(1) height as percentile for age, gender and race

(2) weight as percentile for age, gender and race

(3) occipitofrontal circumference as percentile for age, gender and race

(4) palpebral fissure length as percentile for age, gender and race

(5) "decreased interpupillary distance (IPD)/intercanthal distance (ICD)"

(6) strabismus

(7) midfacial hypoplasia

(8) railroad track ears (Figure 1, right)

(9) ptosis

(10) epicanthal folds not explained by race

(11) flat nasal bridge

(12) anteverted nares

(13) length of philtrum

(14) smooth philtrum

(15) vermilion border of upper lip

(16) cardiac murmur or cardiac malformation

(17) supination of elbow

(18) clinodactyly of fifth fingers (curving towards fourth finger)

(19) camptodactyly (permanent bending of one or more fingers)

(20) altered palmar creases

(21) hypertrichosis

(22) hypoplastic nails

(23) prognathism

 

Parameter	Finding	Points
height in percentile	> 10th percentile	0
	<= 10th percentile	2
weight as percentile	> 10th percentile	0
	<= 10th percentile	1
occipitofrontal circumference	> 10th percentile	0
	<= 10th percentile	3
palpebral fissure length	> 10th percentile	0
	<= 10th percentile	3
IPD, ICD	> 25%percentile	0
	<= 25%percentile	2
strabismus	absent	0
	present	1
midfacial hypoplasia	absent	0
	present	2
railroad track ears	absent	0
	present	1
ptosis	absent	0
	present	1
nonracial epicanthal folds	absent	0
	present	2
flat nasal bridge	absent	0
	present	2
anteverted nares	absent	0
	present	2
length of philtrum	normal or short	0
	long (>= 90th percentile)	2
smooth philtrum	absent	0
	present	3
vermilion border of upper lip	normal or thick	0
	thin	3
cardiac murmur or cardiac malformation	absent	0
	present	1
supination at elbow	normal or increased	0
	limited	1
clinodactyly of fifth fingers	absent	0
	present	2
camptodactyly	absent	0
	present	2
altered palmar creases	absent	0
	present	2
hypertrichosis	absent	0
	present	1
hypoplastic nails	absent	0
	present	1
prognathism	absent	0
	present	1

 

where:

• The "decreased IPD/ICD" does not appear to be a ratio. The distance between inner canthi may be decreased in FASD. Telecanthus may also be present.

 

total score =

= SUM(points for all 23 findings)

 

Interpretation:

• minimum score: 0

• maximum score: 41

• The score is not used to assign a clinical diagnosis in the FASD continuum.