Table 1.
Key clinical features of BOS, SPS and BRPS.
| Characteristic | ASXL1/BOS | ASXL2/SPS | ASXL3/BRPS |
|---|---|---|---|
| hypertelerism (wide-set eyes) |
In some ([158,159]) |
Yes ([160]) |
Yes ([164]) |
| upslanting palprebral fissures (opening between upper and lower eyelid) |
Yes ([158]), In some ([159]) |
- | In some ([164]) |
| downslanting palpebral fissures | - | - | Yes ([162,164]) |
| glabellar nevus flammeus (a red or pink birthmark above the bridge of the nose) |
Yes ([158,165]) |
Yes ([160]) |
- |
| macrocephaly (enlarged head) |
- | Yes ([160]) |
- |
| microcephaly (small head) |
Yes ([159,165]) |
- | In some ([161,163,164]) |
| trigonocephaly (pointed forehead) |
Yes ([158,159]) |
- | - |
| Low birth weight | Yes ([158]) |
No ([160]) |
In some ([161,164]) |
| Feeding difficulties | Yes ([158,159,165]) |
Yes, at birth but not persistent ([160]) | Yes ([161,163,164]) |
| Hypotonia | Yes ([159,165]) |
Yes ([160]) |
Yes ([161,162,163,164]) |
| Intellectual disability | Yes ([165]) |
Varying severity ([160]) | Yes ([161,162,163,164,166]) |
| Autism or Autistic features | - | Some autistic behaviours ([160]) |
Diagnosed or suspected in many ([166]) |
| Seizures | Yes ([158,165]) |
In some ([160]) | In some ([162,163,164]) |
| BOS posture | Yes ([158,159]) |
- | - |