CHARGE syndrome was first identified as a cluster of congenital anomalies in 1979 and has since undergone diagnostic criteria modifications to include the major and minor characteristics that occur during infancy and childhood. As the individuals with
CHARGE syndrome have aged into their adolescents and adulthood, it has become increasingly common for them to develop
scoliosis. This article presents an older population of individuals with
CHARGE syndrome and describes the prevalence of
scoliosis, and identifiable risk factors for
scoliosis. Two case reports demonstrate the variability of
scoliosis in
CHARGE syndrome. A survey of adults and adolescents with
CHARGE syndrome was completed to collect information about late onset medical issues, and those identifying
scoliosis as an issue, were further followed for more information. The total population (n=31) and then the subgroup of individuals with
scoliosis (n=19) were analyzed. Sixty one percent (19 of 31) of this population was diagnosed with
scoliosis. The age of
CHARGE syndrome diagnosis was later in the
scoliosis population (6.3 years compared to 3.7 years in the no
scoliosis population).
Growth hormone use was reported in 7 of 31 of the individuals; 6 of these subsequently were diagnosed with
scoliosis (32% of the
scoliosis group). Of the
scoliosis subgroup, most were mild
scoliosis but eight were diagnosed with moderate to severe
scoliosis, and all of these were treated with either a
brace (n=5) or with surgical fusion (n=2) and one individual had both.
Scoliosis in
CHARGE syndrome individuals is more common than previously reported, and the age of onset is earlier than when routine monitoring for
scoliosis is recommended. The prevalence of
scoliosis in the
CHARGE syndrome population is higher than in the general population therefore, it is very important for physicians to carefully monitor the spine for the development of
scoliosis in children with
CHARGE syndrome, especially if they are being treated with
growth hormone.