Skip to main content

Table 1 Comparison of clinical features of patients with MLL- related WSS[9] with patient 1 and patient 2

From: De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

System Phenotype WSS n = 5 Patient 1 Patient 2
Growth Intrauterine growth restriction 3 - /c
  Postnatal growth restriction 5 + a +d
Nervous Developmental Delay 5 + +
  Hypotonia n.a. + +
  Mild Intellectual disability 5 +b n.a.
Craniofacial Strabismus n.a. + -
  Microcephaly 2 - a -d
  Wide anterior fontanelle 0 - +
  Wide nasal bridge/broad nasal tip 5 + +
  Downslanting/small palpebral fissures 5 + +
  Hypertelorism ? + +
  Right microphthalmia 0 - +
  Micrognathia 0 - +
  Upper vermillion border thin 3 + n.a.
Skeletal Tapering fingers 3 + +
  Broad 1st digit 2 - +
  Sacral dimple 4 + +
  Rib anomalies (X-ray) 3 n.a. n.a.
  2-3 Toe Syndactyly 0 - +
  5th finger clinodactyly n.a. + n.a.
Integumentary Hypertrichosis 5 / -
  Hypertrichosis cubiti 5 / -
  Long/thick eyelashes 5 + +
  Thick eyebrows 5 +e +
  Thick hair n.a. + +
  1. Legend: + Present; − Absent/questionably present; n.a. not ascertained. a. height (ht.), weight (wt.), head circumference (OFC) <3rd centile; b. IQ 65–75; c. birth wt. & OFC normal, ht. < 5th centile. d. wt. and ht. (<3rd centile), OFC (<5th centile). e. synophris.