Growth Chart

Question: Does the CdLS growth chart apply to children with RAD21 variants? Are there any calorie guidelines or nutrition recommendations for children with RAD21-related CdLS? When I’ve looked online, most sources describe RAD21 CdLS as a milder form. However, my son’s case has been much more complex. He has a frameshift mutation (c.1722_1723del, p.Gly575Serfs*2), and from what I understand, this type of mutation may cause more severe symptoms than typical missense variants. My son has a significant diagnosis and abnormalities that seem more in line with classic CdLS than the milder RAD21 descriptions I’ve read.”

Answer: That’s a little tricky…given that there aren’t large numbers of children with RAD21 variants to assess. It’s also complicated in that the correlations, based on the data we have, isn’t strongly consistent, i.e. some children with LOF are severe and some are cognitively normal. Conversely, I’ve seen kids with missense that are among the more severe.
In terms of growth charts, my sense is that the RAD21 kids track more typically toward the bottom of the normal charts (e.g. 3rd-10th%ile).

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