SQ24C50017 - [2025] EWHC 2078 (Fam)

Professor Saggar identifies a family of history of hypermobile spectrum disorder (“HSD”) in the F and some evidence also in the M.

There is very limited evidence to suggest that P has inherited this and the connective tissue panel for the different types of EDS and brittle bone disease genes was normal.

From the combination of clinical features and the gene test results, there is no evidence that P has a significant vascular fragility disorder or that he has OI. The residual risk that P may have a rare vascular fragility disorder with no identifiable gene mutation is less than 1%.

There is very little evidence that P has inherited hypermobility syndrome HSD from his parents. The clinical features and examination findings suggest that the current degree to which P manifests any features of HSD would not explain the bleeding in the brain and/or the fractures.

No further gene testing is required. Forces that are considered plausible and precipitant require identification to explain the full presentation of this child.

Professor Saggar in cross examination accepted that statistically there was a 75% chance that P had inherited HSD from his parents, and that there was a known link between that condition and susceptibility to bruising. However, P was currently showing no signs of hypermobility, having a Beighton Score of 2/9 where only above 6/9 would show HSD. He accepted it was hard to diagnose hypermobility in a young infant because of their high intrinsic level of joint flexibility.

He accepted that P was showing a lot of bruising before the index occurrence, and such bruising could be an indicator of HSD. However he thought it was relevant that P had shown no tendency to bruise after he moved to foster care.

He was clear that HSD would give no propensity to subdural haemorrhages or fractures.