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Congenital Insensitivity/Indifference to Pain
Hsan type iii
Sensory and Autonomic Neuropathies - HSAN Type III
HSAN Type III is present at birth. It is also known as the Riley-Day syndrome or Familial Dysautonomia. While FD occurs almost exclusively in Ashkenazi Jews, Riley-Day Syndrome occurs in the wider community. There are marked degenerative abnormalities in the peripheral and central autonomic nervous system. The symptoms and signs are those of disturbed autonomic function - floppy, feeding difficulties with cyclical vomiting, no overflow tears, blotchy skin, unstable temperature and blood pressure control, poor co-ordination. There is indifference to pain. Intelligence is normal. Only fifty per cent reach adult life (pneumonia is a common cause of death in childhood.)
Inheritance patterns
Autosomal recessive.
Prenatal diagnosis
This is possible. The gene change in HSAN Type III has been localised to a gene (IKBKAP) on chromosome 9q31-q33.
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