Apert syndrome
In Apert syndrome, premature fusion of the bones of the skull and face (craniosynostosis) leads to an abnormally shaped head and unusual facial appearance. In most cases of Apert syndrome, the problem lies with a mutation in a gene (the ... [... more]
BBC |
Lynch syndrome
HNPCC, or Lynch syndrome, is an inherited genetic mutation that causes of cancer of the bowel. A guide to hereditary non-polyposis colorectal cancer, the facts and where to go for support In Britain about one person in 50 will develop cancer of ... [... more]
BBC |
Hereditary non-polyposis colorectal cancer (HNPCC)
HNPCC is an inherited genetic mutation that causes of cancer of the bowel. A guide to hereditary non-polyposis colorectal cancer, the facts and where to go for support In Britain about one person in 50 will develop cancer of the bowel during ... [... more]
BBC |
Androgen insensitivity syndrome
A guide to androgen insensitive syndrome, including how to diagnose and manage it Androgen insensitivity syndrome (AIS) is a condition that affects development of the reproductive and genital organs. A mutation in the androgen receptor gene is ... [... more]
BBC |
total removal of the colon and rectum
FAP is an inherited condition caused by a mutation in a gene that is inherited in an autosomal dominant way. This means that half the children of an affected parent will have FAP, but the remaining unaffected children do not have the gene to pass ... [... more]
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