Skip to main content

Table 1 Clinical findings of our patient compared with previously reported KS patients and defects in EHMT1

From: Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

Overlapping features Our patient Previously reported patients with KS andEHMT1defect (%)
Psychomotoric retardation/ ID + 100%
Childhood hypotonia + 100%
Behavioural problems + (autistic features) 75%
Facial dysmorphisms:   
Midface hypoplasia + 80%
Synophris + 60%
Dysplastic/posterior rotated ears + 50%
Short/small nose + 45%
Brachycephaly + 40%
Protruding tongue/macroglossia + 40%
Hypertelorism + 30%
Anteverted nostrils + 25%
Tented/cupid-bowed upper lip + 25%
Thick/everted lower lip + 25%
Pointed chin + 25%
Different features   
Overweight - 45%
Facial dysmorphisms:   
Arched eyebrows - 30%
Pointed chin - 25%
Prominent forehead + n. r.
Neurologic defects:   
Structural CNS anomalies - n. r.
Seizures - 25%
Renal anomalies - 15%
Sensorineural hearing loss - 15%
Deeply creased soles of the feet + n. r.
Hairy back + n. r.
  1. + denotes present, – denotes absent; n. r. = not reported; KS = Kleefstra syndrome; ID = intellectual disability; Table modified from [11].