TABLE 1.
Comparison of each phenotype according to genotype groups
| Total | Mutation proven | CREBBP | EP300 | CREBBP and EP300 negative | An Asian group (Sanchez‐Navarro et al., 2019) | |
|---|---|---|---|---|---|---|
| (n = 25) | (n = 20) | (n = 16) | (n = 4) | (n = 5) | (n = 13) d | |
| Sex (M:F) | 16:9 | 13:7 | 10:6 | 3:1 | 3:2 | N/A |
| Age at diagnosis (median, month) | 35 | 35 | 28 | 132 | 40 | N/A |
| Preterm infant, n (%) | 0% (0/20) | 0% (0/16) | 0% (0/12) | 0% (0) | 0% (0/4) | N/A |
| Maternal preeclampsia, n (%) | 6% (1/18) | 7% (1/15) | 0% (0/11) | 25% (1) | 0% (0/3) | N/A |
| NICU care, n (%) | 44% (8/18) | 47% (7/15) | 55% (6/11) | 25% (1) | 33% (1/3) | N/A |
| Follow‐up (median, year) | 6.54 | 6.54 | 7.63 | 2 | 9 | N/A |
| Family history, n (%) | 0% (0/24) | 0% (0) | 0% (0) | 0% (0) | 0% (0/4) | N/A |
| Growth & obesity | ||||||
| Short stature at diagnosis a , n (%) | 72% (13/18) | 75% (12/16) | 67% (8/12) | 100% (4) | 50% (1/2) | 90% (9/10) |
| Microcephaly at diagnosis b , n (%) | 82% (14/17) | 77% (10/13) | 73% (8/11) | 100% (2/2) | 100% (4/4) | 91% (10/11) |
| Obesity at last follow‐up c , n (%) | 24% (4/17) | 23% (3/13) | 22% (2/9) | 25% (1) | 25% (1/4) | 27% (3/11) |
| Eye | ||||||
| Strabismus, n (%) | 33% (8/24) | 35% (7) | 44% (7) | 0% (0) | 25% (1/4) | 77% (10/13) e |
| Other eye problem, n (%) | 38% (9/24) | 25% (5) | 19% (3) | 50% (2) | 100% (4/4) | |
| Ear | ||||||
| Hearing loss, n (%) | 0% (0/23) | 0% (0) | 0% (0) | 0% (0) | 0% (0/3) | N/A |
| Cardiovascular | ||||||
| Congenital heart defects, n (%) | 36% (9) | 35% (7) | 44% (7) | 0% (0) | 40% (2) | 46% (6/13) |
| Genitourinary | ||||||
| Genitourinary, n (%) | 46% (11/24) | 42% (8/19) | 47% (7/15) | 25% (1) | 60% (3) | 40% (2/5) f |
| Gastrointestinal | ||||||
| Gastrointestinal, n (%) | 45% (10/22) | 47% (9/19) | 47% (7/15) | 50% (2) | 33% (1/3) | N/A |
| Orthopedic | ||||||
| Scoliosis, n (%) | 13% (3/24) | 15% (3) | 13% (2) | 25% (1) | 0% (0/4) | N/A |
| Broad thumbs and/or halluces, n (%) | 100% (20/20) | 100% (17/17) | 100% (13/13) | 100% (4) | 100% (3/3) | 92% (12/13) |
| Other bone problem, n (%) | 17% (4/24) | 20% (4) | 19% (3) | 25% (1) | 0% (0/4) | N/A |
| Neurologic | ||||||
| Seizure, n (%) | 12% (3) | 10% (2) | 13% (2) | 0% (0) | 20% (1) | 30% (3/10) |
| CNS abnormality, n (%) | 38% (9/24) | 45% (9) | 38% (6) | 75% (3) | 0% (0/4) | N/A |
| Development, intellect | ||||||
| Intellectual disability, n (%) | 96% (24) | 100% (20) | 100% (16) | 100% (4) | 80% (4) | 100% (12/12) |
| Behavior | ||||||
| Autism, n (%) | 13% (3/23) | 15% (3) | 12.5% (2) | 25% (1) | 0% (0/3) | N/A |
| Aggressive behavior, n (%) | 8% (2/24) | 10% (2) | 6% (1) | 25% (1) | 0% (0/4) | 9% (1/11) g |
| Skin | ||||||
| Keloid, n (%) | 12% (3) | 5% (1) | 6% (1) | 0% (0) | 40% (2) | 27% (3/11) |
| Tumor | ||||||
| Malignant tumor, n (%) | 4% (1) | 5% (1) | 6% (1) | 0% (0) | 0% (0) | N/A |
| Benign tumor, n (%) | 8% (2) | 0% (0) | 0% (0) | 0% (0) | 40% (2) | N/A |
a
≤3rd percentile for height.
b
≤3rd percentile for occipital frontal circumference.
c
Body mass index ≥95th percentile for children or ≥25.0 kg/m2 for adults.
d
CREBBP mutation in 69% (9/13) patients.
e
Described as eye abnormalities.
f
Undescended testes in males.
g
Behavioral issues.