Paediatric genetic consultations are offered to children and adolescents with diagnosed or undiagnosed genetic syndromes or medical conditions with a possible underlying genetic cause or contribution.

Reasons for consultation:
  • Concern for a possible undiagnosed genetic condition or syndrome
  • A diagnosed genetic condition or syndrome requiring further assessment, investigation, management or counselling
  • Variation in your child’s facial or other clinical features (dysmorphology)
  • Isolated or multiple congenital anomalies (“birth defects”)
  • Unusual growth, eg. short stature, unexplained failure to thrive, or overgrowth
  • Developmental delay and/or autism spectrum disorder
  • Visual impairment
  • Hearing impairment
  • Limb or skeletal anomalies
  • Neurological or neuromuscular conditions, e.g. severe forms of epilepsy, muscle weakness, unexplained or atypical cerebral palsy
  • Childhood cancers which are frequently associated with an underlying genetic cause or syndrome
  • Metabolic condition
  • Recurrent infections or concern for a primary immune deficiency.
What to expect:
Dr Liani offers comprehensive diagnostic consultations of children and adolescents of all ages in a comfortable and caring environment. During your consultation Dr Liani will gather information from your family history, pregnancy history, your child’s birth, medical and developmental history. Your child will be carefully examined for relevant dysmorphic and other clinical features, followed by a discussion around the diagnosis or possible diagnosis. Dr Liani may advise further genetic or other investigations to determine the underlying cause, prognosis and recurrence risk. A management and follow up plan will be established together with your paediatrician.