Hi my daughter has posterior helical ear pits, 100th percentile birth weight, umbilical hernia and disecti recti, a stork mark birth mark and I had polyhydramnios during pregnancy. I have an umbilical hernia, so does her sister. Her sister was 80th percentile and also had a stork mark birth mark. She does not have a large tongue. Could it just be a coincidence or does this sound like BWS? Thanks for any replies
Likelyhood it's BWS: Hi my daughter has... - BWS Support
Many thanks for your message and hope your daughter is doing well. There was a European wide Consensus meeting some five years ago which came up with a scoring system. Although the features you mention are counted as suggestive features rather than cardinal features they would score 4 meaning that a genetic test would be recommended. I must stress that we are not medical specialists, just parents like yourself. The scoring system can be found on our website at bwssupport.com/new-page-1Do get back to us if we can be of any further help. It would also be useful to know where you live.
Bob and Gill Baker
BWS Support Group UkK