Table 1 Clinical findings and their frequencies or distributions across 80 new and published cases of Kabuki syndrome type 2.
Clinical findinga | Frequency or distribution |
|---|---|
Sex (males/females, n[%]) (n = 80) | 34 (42.5)/46 (57.5) |
Age at last examination (years, m[IQR]) (n = 57) | 7 (3.25; 13) |
Typical craniofacial dysmorphismsb (n[%]) (n = 80) | 51 (63.7) |
Growth parametersc | |
Weight SD (m[IQR]) (n = 43) | −1.43 (−2.65; 0) |
Height SD (m[IQR]) (n = 46) | −2 (−2.82; −1.16) |
HC SD (m[IQR]) (n = 43) | −2.34 (−3; −0.61) |
Antenatal and neonatal features | |
Abnormal pregnancy findings (n[%]) (n = 27) | 10 (37) |
Gestation duration (weeks, m[IQR]) (n = 45) | 38 (36; 39) |
Birth weight SD (m[IQR]) (n = 44) | 0.01 (−1.19; 0.69) |
Birth length SD (m[IQR]) (n = 18) | −0.64 (−1.31; 0.83) |
Birth HC SD (m[IQR]) (n = 20) | −0.15 (−1.25; 0.31) |
Neonatal hypotonia (n[%]) (n = 44) | 35 (79.5) |
Neonatal feeding difficulties (n[%]) (n = 50) | 42 (84) |
Neonatal hypoglycemic (n[%]) (n = 55) | 31 (56.4) |
Neurological and developmental features | |
Motor delay (n[%]) (n = 61) | 58 (95.1) |
Independent walking (n[%]) (n = 42) | 31 (73.8) |
Age at which independent walking achieved (months, m[IQR]) (n = 27) | 19 (17; 30) |
Speech delay (n[%]) (n = 59) | 54 (91.5) |
Developed speech (n[%]) (n = 42) | 30 (71.4) |
First words (months, m[IQR]) (n = 20) | 24.5 (20; 36) |
Intellectual disability (n[%]) (n = 57) | 53 (93) |
Intellectual disability severity (n = 39) | |
Mild (n[%]) | 9 (23.1) |
Moderate (n[%]) | 9 (23.1) |
Severe (n[%]) | 21 (53.8) |
Behavioral problems (n[%]) (n = 41) | 24 (58.5) |
Seizures history (n[%]) (n = 47) | 17 (36.2) |
Hypotonia (n[%]) (n = 53) | 34 (64.2) |
CNS anomalies (n[%]) (n = 28) | 17 (60.7) |
Ventriculomegaly (n[%]) | 6 (21.4) |
Delayed CNS myelination (n[%]) | 3 (10.7) |
Other (n[%]) | 10 (35.7) |
Ectodermal anomalies (n[%]) (n = 48) | 45 (93.8) |
Fetal fingertip pads (n[%]) | 35 (72.9) |
Hypertrichosis (n[%]) | 11 (22.9) |
Nail anomalies (n[%]) | 5 (10.4) |
Other (n[%]) | 13 (27.1) |
Musculoskeletal anomalies (n[%]) (n = 55) | 44 (80) |
Brachy/clinodactyly (n[%]) | 24 (43.6) |
Joint hypermobility (n[%]) | 23 (41.8) |
Hip problems (n[%]) | 14 (25.5) |
Other (n[%]) | 15 (27.33) |
Gastrointestinal anomalies (n[%]) (n = 54) | 40 (74.1) |
Feeding difficulties requiring support (n[%]) | 33 (61.1) |
Gastroesophageal reflux (n[%]) | 15 (27.8) |
Chronic diarrhea (n[%]) | 3 (5.6) |
Recurrent vomiting (n[%]) | 1 (1.9) |
Palate anomalies (n[%]) (n = 67) | 43 (64.2) |
High/narrow palate (n[%]) | 38 (56.7) |
Cleft lip/palate (n[%]) | 8 (11.9) |
Velopharyngeal insufficiency (n[%]) | 3 (4.5) |
Dental anomalies (n[%]) (n = 45) | 27 (60) |
Hypodontia (n[%]) | 10 (22.2) |
Malocclusion (n[%]) | 7 (15.6) |
Neonatal teeth (n[%]) | 7 (15.6) |
Other (n[%]) | 12 (26.7) |
Ophthalmological problems (n = 48) | 28 (58.3) |
Strabismus (n[%]) | 15 (31.3) |
Nystagmus (n[%]) | 5 (10.4) |
Other (n[%]) | 15 (31.3) |
Immunological anomalies (n[%]) (n = 52) | 26 (50) |
Recurrent infections (n[%]) | 22 (42.3) |
Eczema (n[%]) | 4 (7.7) |
Other (n[%]) | 4 (7.7) |
Cardiovascular anomalies (n[%]) (n = 63) | 31 (49.2) |
Septal defects (n[%]) | 15 (23.8) |
Valvular anomalies (n[%]) | 11 (17.5) |
Aorta anomalies (n[%]) | 10 (15.9) |
Other (n[%]) | 13 (20.6) |
Endocrine anomalies (n[%]) (n = 47) | 18 (38.3) |
Hyperinsulinism (n[%]) | 13 (27.7) |
Breast anomaliesd (n[%]) | 5 (10.6) |
Other (n[%]) | 2 (4.3) |
Hearing loss (n[%]) (n = 26) | 8 (30.8) |
Genitourinary anomalies (n[%]) (n = 53) | 14 (26.4) |
Horseshoe kidneys (n[%]) | 4 (7.5) |
Vesicoureteric reflux (n[%]) | 2 (3.8) |
Other (n[%]) | 12 (22.6) |
