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. However, failure of this process has been observed in one individual studied. The condition is extremely rare, with less than forty reported cases as of 2011. In theory, X-inactivation should occur and leave only one X chromosome active in each cell. The condition is due to problems during the formation of the in a person's parents.

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The features of the syndrome likely arise due to failure of and the presence of multiple X chromosomes from the same parent causing problems with. Successive have been observed in the mother of at least one patient. Diagnosis is suspected based on symptoms and confirmed by. Risk factors include older parents at the time of. Treatment is based on symptoms. The reason for this is thought to be the presence of an unusually large, and imbalanced, number of X chromosomes interfering with the process. The condition was first described in 1963.

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Signs may include , short height, , , and. . . . .

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