| 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 |