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Fragile X syndrome (FXS) is one of the most common forms of intellectual and developmental disabilities, as well as the most widely inherited intellectual disability, which has a tremendous impact on the family. FXS is, apart from Down syndrome, the most common form of an intellectual and developmental disability. The literature indicates that one in 2 500 to 4 000 females and one in 4 000 to 6000 females are affected by FXS. These numbers indicate that one in 260 females has the full-mutation gene, while one in 300 to 800 males has the premutation gene. Studies show that little research and resources with regard to FXS are available internationally, especially in South Africa. Parents are often plagued by feelings of guilt as they are the carriers of the FMR1 gene that causes FXS. The mother is particularly affected, as she is often the main caregiver, as well the one who carried the FMR1 gene to her child. However, both parents suffer because they experience profound emotions such as the loss of their dreams for their child. These families are also socially isolated, as the extended family and friends often neither understand, nor accept the behaviour of a child with FXS. These children present with behavioural, emotional and physical difficulties. Some of the behaviour difficulties are hand-flapping, hand-biting, anxiety, tantrums and aggression. Furthermore, these children experience emotional difficulties, such as extreme shyness and feelings of rejection. They very often do not know how to deal with their emotions. These children also present with physical manifestations, such as prominent ears, long faces and double-jointedness. The marital relationship of the parents is affected, as they have to take care of a child with an intellectual disability and this often puts a lot of strain on the marriage. The siblings tend to feel rejected and neglected. As the extended family is also supposed to go for genetic counselling, denial and subsequent avoidance of social contact with the affected family are often experienced. Situated within an interpretivist paradigm, this study followed a qualitative approach and employed a multiple case study design. Three experts on FXS were purposively selected to participate in the study based on their knowledge and experience with families affected by FXS. The data were collected through interviews and a narrative. The findings indicate that in order for families to deal with the various challenges that FXS presents, support is needed from society, family and friends. The recommendations include that more awareness needs to be created about FXS. The empirical analysis in this study revealed that FXS has a severe impact on family relations.