ANKRD11

Clinical Characteristics

The most typical features of KBG syndrome include:

  • Feeding difficulties in infants and children
  • Developmental delay or learning difficulties
  • Delays in reaching developmental milestones such as sitting up, crawling and walking. The appearance of first words or phrases or phrases is frequently delayed.
  • Behavioural problems, such as anxiety, inability to stand still or concentrate and difficulties in social interaction, autistic features
  • About half of the children with KBG syndrome grow slowly and unusually short for their age

Facial characteristics that appear to occur more commonly among the affected individuals include:

  • A round or triangular shaped face
  • Bushy eyebrows
  • Large permanent upper middle teeth
  • Slightly upturned or bulbous nose
  • Low hairline
  • Prominent ears

Other common problems may include:

  • Hearing loss (mostly due to glue ear)
  • Undescended testes in boys
  • Seizures
  • Vision problems (such as astigmatism, squinting)
  • Scoliosis
  • Small hands, curved 5th fingers (clinodactyly)
  • Heart defects