Suspect my 4 year old may have BWS: Hi, I’ve... - BWS Support

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Suspect my 4 year old may have BWS

Hi, I’ve ended up here after googling ear pits and linking a few things together to come up with BWS.

My 4 year old has an ear pit on the front of her right ear, she’s also had diastasis recti since birth and a small “outie” belly button which I think is a small hernia. She’s quite small for her age but as a baby her head circumference was off the centiles. She was 8lb 15 at birth (40+6 weeks) but stayed around average size. She was born with a stork mark on both her head and neck (same as myself).

I’ve never heard of this until now but I also have an almost 7 month old son who was 9lb 7oz at birth (38 weeks) and the midwife also commented on the length of his cord and placenta. I had slight polyhydramnios and he was also born with a stork mark on both the forehead and neck. He is now 26lb, very chunky with a large head circumference, both head and weight are off the centiles.

I’m starting to convince myself one or both have some form of BWS and possibly myself as I was always tall for my age, and after an ultrasound on my kidneys to check for stones the sonographer commented that my kidneys were very long but didn’t seem concerned in anyway. I know it’s unlikely though and this is why I’m unsure - does it sound like I should get them checked out? I don’t want to be fobbed off as an over anxious mum.

Any advice would be appreciated,

Thanks in advance x

2 Replies
oldestnewest

Many thanks for your posting. To be sure whether you or your family have BWS it's best to have a genetic test carried out. There is a website giving you the details of your nearest genetic testing centre. Meanwhile the European wide consensus group which met last year agreed the following table. A score of 4 would indicate classical BWS whereas a score of 2 would indicate that genetic testing would be helpful. Please get back to me on 01258 817573 if it helps to talk.

Bob Baker

BWS Support Group UK

Table 1. Clinical Features of Beckwith-Wiedemann Spectrum

Cardinal Features (2 points per feature)

Macroglossia

Exomphalos

Lateralised overgrowth

Multifocal/bilateral Wilms tumour

Hyperinsulinism

Pathology findings: adrenal cortex cytomegaly

mesenchymal dysplais

pancreatic adenomatosis

Suggestive features (1 point per feature)

Birth Weight >+2SD

Facial nevus flammeus

Polyhydramnios/Placentomegaly

Ear creases/pits

Transient hyperinsulinism

Typical BWS tumors (neuroblastoma, rhabdomyosarcoma, unilateral WT, hepatoblastoma, adrenocortical carcinoma, pheochromocytoma)

Nephromegaly/Hepatomegaly

Umbilical hernia/Diastasis recti

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Yes, it is best to get the genetic test done as the previous reply. Any other questions you may have, please let me know. If positive, there is a lot of monitoring with sonograms and blood tests . Wish you the best!

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