Back to homepage

Orphanet website Ireland entry point

Orphanet Ireland
Access Orphanet services in Ireland and other countries in:

National Clincal Care Pathways for Rare Diseases



The following clinical care pathways for Rare Diseases have been developed in Ireland and published in peer-reviewed journals, or are international pathways that have been validated for Ireland by our National Coordination team. Pathways marked with a * have been developed with the collaboration of Irish Rare Disease Experts.


The Orphanet directory also contains information about more than 270 validated Clinical Practice Guidelines for rare diseases - these can be accessed from the bottom of the disease summary page for the condition.  More information about Orphanet clinical practice guidelines can be found here.





Diagnostic pathway for developmental delay *

Informing families of their child's disability - National Best Practice Guidelines *



Rare syndromes


Alstrom syndrome


Bardet Biedl syndrome


Ehlers-Danlos syndromes - UK Royal College of General Practitioners Toolkit


Hereditary Haemorrhagic Telangectasia (HHT)


Malignant hyperthermia - clinical management * - genetic testing *


Silver Russell syndrome *


Wolfram (DIDMOAD)


22q11 syndrome



Rare inherited metabolic disease


Galactosemia *


Homocystinuria *


Emergency protocol for Methylmalonic aciduria


Emergency protocol for Urea cycle defects (citrullinema and ASD)


Emergency protocol for Maple Syrup Unine Disease (MSUD)

Access Orphanet services in Ireland and other countries in:
Legal noticeContact us — Last updated on: 21-09-27