System | Phenotype | WSS n = 5 | Patient 1 | Patient 2 |
---|---|---|---|---|
Growth | Intrauterine growth restriction | 3 | - | /c |
Postnatal growth restriction | 5 | + a | +d | |
Nervous | Developmental Delay | 5 | + | + |
Hypotonia | n.a. | + | + | |
Mild Intellectual disability | 5 | +b | n.a. | |
Craniofacial | Strabismus | n.a. | + | - |
Microcephaly | 2 | - a | -d | |
Wide anterior fontanelle | 0 | - | + | |
Wide nasal bridge/broad nasal tip | 5 | + | + | |
Downslanting/small palpebral fissures | 5 | + | + | |
Hypertelorism | ? | + | + | |
Right microphthalmia | 0 | - | + | |
Micrognathia | 0 | - | + | |
Upper vermillion border thin | 3 | + | n.a. | |
Skeletal | Tapering fingers | 3 | + | + |
Broad 1st digit | 2 | - | + | |
Sacral dimple | 4 | + | + | |
Rib anomalies (X-ray) | 3 | n.a. | n.a. | |
2-3 Toe Syndactyly | 0 | - | + | |
5th finger clinodactyly | n.a. | + | n.a. | |
Integumentary | Hypertrichosis | 5 | / | - |
Hypertrichosis cubiti | 5 | / | - | |
Long/thick eyelashes | 5 | + | + | |
Thick eyebrows | 5 | +e | + | |
Thick hair | n.a. | + | + |