Table 2 Summary of the main clinical features of all known patients (15) with Bainbridge–Ropers syndrome and ASXL3 LoF variant identified so far

From: Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

  Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Patient 6 Indiv. 1–4 Bainbridge etal 2 Dinwiddie et al 10 Indiv. 1–3 Srivastava et al 11 Hori et al 12 Total n=15 (a)
Characteristic facial dysmorphism (b) + + + + + + + (4/4) n.a. + (2/3) n.a. 12/13
Intellectual disability (too young) ++ ++ ++ ++ ++ ++ (4/4) ++ + (2/2) + 14/14
Feeding difficulties + + + + + + + (3/4) + + (3/3) + 14/15
Muscular hypotonia + + ++ + + ++ + (3/4) + + (3/3) 13/15
Motor delay + + + ++ ++ + + ++ + (4/4) ++ + (3/3) + 15/15
Speech impairment + ++ ++ ++ ++ ++ ?? (1/1) ++ + (3/3) + 12/12
Seizures + + −(0/4) + (1/3) 3/15
Birth measurements Normal Normal Normal Normal Normal Normal SGA (2/4) Normal SGA (1/3) SGA Normal in 11/15, SGA in 4/15
Postnatal growth Normal Short Normal Normal Normal Normal Short (2/4) Normal Normal (1/1) Short Normal in 9/13, short in 4/13
Postnatal OFC Normal Normal Normal Normal Normal ↓ (2/3) Normal (3/3) Normal in 9/14, ↓ in 5/14
  1. Abbreviations: n.a., not applicable; OFC, occipito-frontal circumference; SGA, small for gestational age.
  2. aNot every feature was documented for all patients; therefore the total number of patients can differ.
  3. bCharacteristic craniofacial features comprise a longish face with prominent forehead, temporal narrowing, arched eyebrows, (synophrys), downslanting palpebral fissures, prominent columella and small alae nasi, downturned corners of the mouth and little facial expression/open mouth appearance.