Feeding, weight gain, and faulure-to-thrive. VCFS is caused by a deletion of 22q11.2. One of our 2 copies of chromosome 22 loses 40 genes. DGCR6 PRODH2 DGCR5 CALS2 IDD TSK-P TSK-1 DGS-I GSCL CTP CTLD HIRA NLVCF VCF-A UFD1L CDC45L TMVCF PNUTL GP1B Β TBX-1 WDR14 TRXR2 COMT
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One of our 2 copies of chromosome 22 loses 40 genes
Genome at 22q11.2
Low copy repeats (4)
Most individuals with VCFS are missing 40 genes on one copy of chromosome 22. One or more of these genes may contribute to normal growth or normal growth velocity as regulated by hormones or some other timing mechanism
Many (most) children with VCFS have low weight and short stature when compared to the CDC growth charts that are normed for the general population. This is especially true for infants, toddlers and young children.
Is it appropriate to compare children with VCFS (people missing 40 genes) to growth velocity curves that are normed for people who do not have VCFS (who are not missing 40 genes)?
Research has already demonstrated that muscle mass in people with VCFS is reduced for at least some parts of the body. There are fewer muscle fibers and the each muscle fiber is smaller than normal.
Muscle is a dense and heavy tissue that accounts for a high percentage of body weight.
VCFS baby with failure-to-thrive based on CDC data
There are growth curves specific to other syndromes such as Down syndrome and Williams syndrome.
Down syndrome Down syndrome and Williams syndrome.
Williams syndrome Down syndrome and Williams syndrome.
Growth Data for VCFS Down syndrome and Williams syndrome.
Method Down syndrome and Williams syndrome.
boys 0 - 36 months of age compared to CDC norms used for the general population
males 2 - 20 years of age compared to CDC norms used for the general population
females 0 - 36 months of age compared to CDC norms used for the general population
females 2 - 20 years of age compared to CDC norms used for the general population
Comparisons of age
Comparisons of age
The overwhelming majority of people with chromosomal rearrangements involving multiple genes have abnormal growth patterns, and the large majority of them have growth velocities that do not look like the general population. Comparing people with genetic or chromosomal rearrangements to growth charts based on the general population in order to recommend treatment is not appropriate.
Therefore, treating children with VCFS in a manner that is designed to have them fit the norms for the general population is inappropriate.