When to refer to clinical genetics
A majority of underlying chronic disorders in children are either clear-ly genetic or have a genetic susceptibility. It is increasingly important for paediatricians to be able to recognize genetic disorders and to know when to enlist the help of a clinical geneticist.
• Dysmorphic features: physical features, particularly unusual facial features, that are not usually found in a child of the same age or ethnic background.
• Abnormal growth parameters: height or weight or OFC >98th centile or <2nd centile.
• Congenital anomalies:
• multiple congenital anomalies;
• isolated congenital anomaly in conjunction with dysmorphic features/developmental delay/abnormal growth parameters/a family history.
• Dysmorphic features: esp. in conjunction with developmental delay/ learning disability/congenital anomaly/abnormal growth parameters.
• A family history suggestive of a recurrent abnormality.
• Developmental delay/learning disability:
• unexplained severe developmental delay/learning disability;
• developmental delay/learning disability in conjunction with dysmorphic features/congenital anomaly/abnormal growth parameters/a family history.
• Multiple problems and no diagnosis: child with multiple problems and under the care of many specialists with no unifying diagnosis.
• New diagnosis of a genetic disorder:
• enables explanation of the genetic basis of the condition;
• essential if the diagnosis may have implications for other relatives;
• important if parents would like advice regarding future pregnancies.
Teenager with a genetic disorder: if a genetic diagnosis was made in infancy/early childhood, refer patient back to clinical genetics in mid-teens so that the young adult understands the genetic basis of their condition and the risks to their own offspring.