Table 1 Clinical features of II-3 compared to the characteristic clinical sings reported for the DDX3X syndrome and relative prevalence
DDX3X syndrome clinical signs (relative prevalence) | Clinical signs of II-3 |
|---|---|
Development | |
Developmental delay (106/106) [10] | + |
Intellectual disability (106/106) [10] | + |
Language delay (38/75) [10] | + |
Growth | |
Failure to thrive (13/44) [11] | + |
Short stature (1/6) [11] | – |
Microcephaly (39/107) [11] | – |
Brachycephaly (3/11) [11] | + |
Neurologic/behavioral | |
Seizures (24/116) [10] | EEG anomalies |
Hypotonia (66/116) [10] | + |
Hypertonia/spasticity (9/78) [11] | – |
Mixed hypo and hypertonia (31/93) [10] | – |
Sleep disturbance (2/6) [11] | + |
Movement disorders/spasticity in the legs (22/49) [11] | – |
Behavior disorders/autism spectrum disorder/aggression (24/49) [11] | – |
Hyperreflexia (9/78) [11] | + |
Brain MRI | |
Polymicrogyria (11/89) [10] | + (anterior) |
Corpus callosum hypoplasia/agenesis (76/105) [11] | + |
Ventricular enlargement (27/105) [11] | – |
Key-hole shaped temporal horns (32/89) [10] | – |
Colpocephaly (3/89) [10] | – |
Delayed myelination/decreased cortical white matter (50/89) [10] | + |
Small pons (11/89) [10] | – |
Small inferior vermis (6/89) [10] | – |
Sensory | |
Vision problems (strabismus, coloboma, astigmatism, nystagmus) (29/92) [10] | + |
Hearing problems (11/114) [11] | – |
Facial dysmorphisms | |
Short/down-slanting palpebral fissure length (2/6) [11] | – |
Hypertelorism/telecanthus (6/36) [11] | + |
Epicanthal folds (1/6) [11] | – |
Elongated/flattened/triangular face (9/36) [11] | + |
High/broad forehead (8/36) [11] | + |
Wide nasal bridge/bulbous tip (9/36) [11] | + |
Short/narrow nose, anteverted nares (11/36) [11] | – |
Micrognathia (2/6) [11] | + |
High arched palate (4/6) [11] | ND |
Thin upper lip (4/6) [11] | + |
Low set/protruding/wide ears (2/6) [11] | + |
Smooth/long philtrum (3/6) [11] | – |
Cleft lip/palate (3/44) [11] | – |
Macroglossia (ND) | + |
Other | |
Congenital cardiac defects (13/90) [10] | – |
Precocious puberty (11/94) [10] | – |
Feeding difficulties (gastro-esophageal reflux/swallowing) (3/6) [11] | + |
Joint hyperlaxity (14/44) [11] | – |
Scoliosis (15/94) [10] | – |
Malformations of the hands (1/6) [11] | + |
Skin pigmentation anomalies (16/44) [11] | – |
Loss/reduced subcutaneous fat (2/6) [11] | + |