See also Genetics section under Neonates.
Ashkenzai Jews (but similar sensory neuropathies in other ethnic groups). Variable symptoms including:
Does not affect intelligence but often emotional lability - cf Darkman, the comicbook character who does not feel pain.
Autosomal recessive, HFE gene (5% of normal population are carriers). But penetrance is low so not all heterozygotes get disease; so do genetic test on parents to assess risk to child, but do iron studies to look for disease (iron binding, or transferrin saturation =serum Fe/IBC, normally 30% but affected by liver disease. Ferritin is less sensitive in early disease.
Simon Broome criteria for familial hypercholesterolaemia -
Ghent criteria (De Paepe, 96) - various major and minor criteria in different organs.
Trisomy 8 has same skeletal appearances but with MR, no cardiac/eye (generally mosaics). Fibrillin gene - neonates with new mutation can be severely affected with heart failure and contractures. Children with 1 feature missing should be kept under review in case evolving.

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