Table 6: Sets of Clinical Signs Versus Syndromes, ‘Set Method’ Results

Syndrome Name
Set of clinical signs
Sensitivity Specificity Predictive Value
FAS
Short palpebral fissures
Midface hypoplasia

0.89
0.79

1.0
0.98

1.0
0.98
Trisomy 21
Flat occiput
Upward slanting palpebral fissures
Flat face

0.77
0.79
0.90

1.0
0.99
0.99

1.0
0.97
0.93
Fragile X
Large ears

0.88

0.98

0.76
Noonan
Down slanting palpebral fissures
Hypertelorism Low set ears

0.96
0.87

0.99
0.98

0.87
0.74
Congenital CMV
Hepatosplenomegaly

0.89

0.99

0.71
Trisomy 18
Large ears Cryptorchidism
Prominent calcaneus Cryptorchidism
Polydactyly Cryptorchidism
Polydactyly

0.32
0.65
0.86
0.86

0.99
0.99
0.99
0.98

0.78
0.78
0.71
0.65
Turner
Oedema of hands and feet
Micrognathia Low hair line

0.38
0.61

1.0
0.99

1.0
0.70
Trisomy 13
Hypertelorism Polydactyly Cryptorchidism
Polydactyly Microcephaly Cryptorchidism
Hypertelorism Microcephaly Cryptorchidism
Hypertelorism Simian crease Cryptorchidism

0.69
0.59
0.56
0.66

1.0
1.0
1.0
0.99

1.0
1.0
1.0
0.95
deLange
Synophrys
Long eyelashes
Long philtrum Clinodactyly

0.82
0.76
0.58

1.0
1.0
1.0

1.0
1.0
1.0
Williams
Broad nasal tip
Broad nasal bridge Long philtrum
Broad nasal bridge

0.74
0.61
0.59

1.0
1.0
0.82

1.0
1.0
0.99
Beckwith
Macroglossia Midface hypoplasia
Macroglossia Cryptorchidism
Macroglossia Hepatosplenomegaly

0.84
0.79
0.73

1.0
1.0
1.0

1.0
1.0
1.0
Prader-Willi
Flat face Cryptorchidism
Hypogenitalism

0.69
0.97

1.0
0.99

1.0
0.92
Meckel
Polydactyly Hepatosplenomegaly Stillbirth
Occipital encephalocoele Stillbirth

0.86
0.86

1.0
1.0

1.0
1.0
Cri du chat (5p-)
Cat like cry

1.0

1.0

1.0
Zellweger
Hepatosplenomegaly Hypotonia
Low BW Hypotonia Upward slant palp fissures
Micrognathia Low BW Hypotonia Cryptorchidism

0.80
0.5
0.25

1.0
0.99
0.99

1.0
0.83
0.73
Klippel-Feil
Short neck Low hairline Microcephaly

0.29

1.0

1.0
SLOS
Polydactyly Microcephaly Micrognathia Low BW

0.15

1.0

1.0

FAS, fetal alcohol syndrome, SLOS, Smith-Lemli-Opitz syndrome. Low BW, low birth weight, Upward slant palp fissures, upward slanting palpebral fissures.