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Familial recurrence risk

      
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome. 

Genetic counselling should be offered to all families with a family member with CdLS. Genetic counselling is when prospective parents are given advice about the risks of having a child with a genetic disorder. 

In general the recurrence risk is small as in most cases the mutation occurs spontaneously after fertilisation. But this should be examined, as the mutation can be present in the father or the mother. 


Recommendation(s)

Familial recurrence risk

R6
Genetic counselling should be offered to all families with a family member with CdLS. Families should be counselled that the recurrence risk of CdLS differs depending on the gene involved. In the non-X-linked forms, the recurrence risk is 0.89% due to germline mosaicism. Autosomal dominant inheritance of CdLS does occur, meaning if one copy of the mutation is present, the individual will show clinical effects. In clinically diagnosed individuals with CdLS, the recurrence risk is 1.5%.


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                

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