Table 2.
Clinical signs reported in patients with a KMT2A mutation and an initial clinical diagnosis of chromatinopathy. Presence of all features is compared with the one in WDSTS.
| WDSTS | CdLS | CSS | KS | RSTS | |
|---|---|---|---|---|---|
| [26] | 1 + 1 pt [35,36] | 1 pt [29] | 2 pt [31] | 1 + 6 pt [26,37] | |
| Vision problems | − | 0/2 | 1/1 | 1/2 | 1/7 |
| Cardiac problems | + | 1/2 | 1/1 | 1/2 | 0/7 |
| CNS problems | +/− | 1/2 | 0/1 | NA | 0/7 |
| Genitourinary problems | − | 0/2 | 1/1 | 1/2 | 2/7 |
| Feeding problems | + | 0/2 | 1/1 | 1/2 | 3/7 |
| Behavior problems | + | 1/2 | 0/1 | NA | 3/7 |
| Frequent infection | − | 0/2 | 1/1 | 1/2 | 0/7 |
| Seizures | +/− | 0/2 | 0/1 | 1/2 | 1/7 |
| ID | ++ | 2/2 | 1/1 | 1/2 | 7/7 |
| Speech delay | ++ | 1/2 | 1/1 | NA | 5/7 |
| Microcephaly | − | 2/2 | NA | NA | 3/7 |
| Eyes anomalies (thick eyebrows, synophrys, long eyelashes, ptosis, downslanting/narrow palpebral fissure) | + | 2/2 | 1/1 | 2/2 | 7/7 |
| Nose anomalies (depressed nasal bridge, broad nasal tip) | + | 2/2 | 1/1 | 2/2 | 7/7 |
| Mouth anomalies (high arched palate, thin upper vermilion) | +/− | 2/2 | 1/1 | 0/2 | 4/7 |
| Hands/feet anomalies (clinodactyly, brachydactyly, persistent fetal finger pads, broad halluces) | +/− | 2/2 | 1/1 | 2/2 | 6/7 |
| Delayed bone age | + | 0/2 | NA | NA | 0/7 |
| Hirsutism | + | 1/2 | 1/1 | NA | 4/7 |
| Hypotonia | ++ | NA | 1/1 | 2/2 | 3/7 |
WDSTS: Wiedemann–Steiner syndrome, CdLS: Cornelia De Lange syndrome, CSS: Coffin–Siris syndromes, KS: Kabuki syndrome, RSTS: Rubinstein–Taybi syndrome, CNS: Central nervous system, ID: intellectual disability. ++ = 70–100% WDSTS patients; + = 20–70% WDSTS patients; +/− = 5–20% WDSTS patients; − = <5% WDSTS patients; NA = not assessed.