1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Neurofibromatosis type 1 (NF1)

 

Also known as Von Recklinghausen's disease; Peripheral Neurofibromatosis; Von Recklinghausen's Neurofibromatosis; Recklinghausen's Phakomatosis; Multiple Neurofibroma.

 

GP's role

 

1. Where possible confirm or rule out a diagnosis in the parents of an affected individual using the clinical diagnostic criteria listed below. If unsure of a diagnosis, refer to Genetics Services (see Contacts, support and testing).
   
2. Refer as appropriate to specialist paediatric or adult neurology, dermatology, ophthalmology and/or orthopaedic services.
   
3. Refer to Genetics Services for discussion of prenatal genetic testing (see Contacts, support and testing).
   
4. Refer family to relevant support groups (see Contacts, support and testing).

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