OrphanAnesthesia

We start the New Year with a new recommendation - please find here the recommendation on Nemaline myopathy.

This year, again, was a big challenge for all of us. In spite of these really difficult times, many physicians all over the world supported this project and did their very best to create the recommendations on our website. We now offer 208 recommendations in up to 5 languages, and more are on their way. We want to thank all of you who contributed!

The project team of OrphanAnesthesia wishes a happy and healthy New Year to everybody!

We are happy to present another new recommendation at the end of this year, on Noncompaction cardiomyopathy. With this, we now have 208 recommendations online to enhance safer and better treatment for patients with a rare disease.

Please find here a new recommendation, on Sotos syndrome.

We are happy to present you a new recommendation, on pdf Vein of Galen malformation (226 KB) . Thanks to author and reviewers!

Thanks to our Spanish colleagues, we are able to present 2 new Spanish translations, for Goldenhar syndrome and for TAR syndrome.

We are happy to offer now a recommendatino on Amyotrophic lateral sclerosis on our website. Thanks to the dedicated contributors!

Please find here the recommendation on transverse myelitis. Thanks to the authors and reviewers!

We are happy to present more translations of recommendations:

Beckwith-Wiedemann syndrome
Gerstmann-Straeussler-Scheinker syndrome
Macrophage activation syndrome
Timothy syndrome
 

Thanks to our Spanish colleagues, we now offer 4 more recommendations in Spanish:

Miasthenia gravis - Neuromiotonia - Paraplejia Espastica Hereditaria - Sindrome de Prader-Willi.

Thanks to our Spanish colleagues, we now can offer a Spanish version of the recommendation on Pompe disease.

Please find here the recommendation on Neuromyotonia. Thanks to the authors and reviewers who add to more than 200 recommendations on rare diseases!

Please find here the Spanish translation of Williams syndrome and here of Rett syndrome, thanks to the support of members of the Working Group "Enfermedades Raras y Anestesia", Sección Pediátrica de la Sociedad Espagñola de Anestesiología, Reanimación y Terapéutica del Dolor (SEDAR).

Please find here the recommendation on Bland-White-Garland syndrome.

We now offer recommendations on 202 rare diseases, and are very happy about the ongoing commitment of so many people all over the world. Thank you!

Here you find a recommendation on Goodpasture syndrome.

We are happy to present a new recommendation, on Gerstmann-Sträussler-Scheinker syndrome.

With this new one, we now offer 200 recommendations. To the many contributors from all over the world who have achieved this - thank you!!

This project lives by the dedication and effort from all of you who spend your time and energy to make available all information there is on a rare disease, and so contribute hugely to patient safety.

Best regards - your OrphanAnesthesia Team

We are happy to offer now an update on the recommendation for Macrophage activation syndrome on our website.

We are happy to present you the Spanish translation of the recommendation on urea cycle disorders: Trastornos del ciclo de la urea

Thanks to our dedicated Spanish colleagues!

Please find here a new recommendation, on Dyke-Davidoff-Masson syndrome.

We are happy to present a new recommendation on Donohue syndrome.

Next Sunday is Rare Disease Day - the last day of February. This day is meant to focus attention on  the so called "orphan" diseases which are treated all too often as a negligible quantity. They are not. Join in to the efforts to make people aware of them, and to make treatment safer!

We are happy to present you a further Spanish translation, for Klippel-Feil syndrome.

Thanks to the Czech Society of Anaesthesiology and Intensive Care Medicine, we now can offer 176 of our recommendations in Czech on our website.

We are very happy to end the year with a new recommendation, on Systemic mastocytosis, and with our best wishes for you: have a peaceful time in these last days of the year, and a good start into the New Year!

We also want to thank all contributors for their ongoing efforts - with their help, the project did go on in spite of all difficulties in this very special year. The project is going on, slowly, but: going on!

your Project Team OrphanAnesthesia

WE are happy to present more translations into Portuguese. Please find here

Atresia Biliar

CADASIL

The recommendation on Alkaptonuria has now been updated - we say thank you to the dedicated authors!

Please note that the Spanish and the Czech version have not yet been updated, too. We are working on this.

We are happy to present here translations into Spanish on the following syndromes:

Hurler syndrome, Congenital hypothyroidism, Coffin-Siris syndrome, Insulinoma.

Please find here a Portuguese translation for Behçet's disease, thanks to a Brasilian colleague.

We are happy to present here a new recommendation, on Madelung's disease. Our thanks to the authors and reviewers who have made it possible.

We are very happy to inform you that we can offer now 20 more Czech translations of the recommendations here online. Our thanks to the Czech colleagues who made this possible.

We are happy to present this comprehensive recommendation on urea cycle disorders, including recommendations on N-acetylglutamate synthase deficiency
Carbamylphosphate synthetase deficiency
Ornithine Transcarbamylase Deficiency
Ornithine Transcarbamylase Deficiency
Argininosuccinate lyase deficiency
Argininaemia

 

We are happy to offer a new recommendation, on Alternating hemiplegia of childhood syndrome.

Please find here a new recommendation, on Aromatic L-amino acid decarboxylase deficiency.

Thanks to the dedicated authors and reviewers who made this possible! 

We are happy to present here 3 new translations into Spanish:

Artrogriposis distal tipo 1

Artrogriposis distal tipo 3

Síndrome de Treacher Collins

We are happy to present  5 more translations into Portuguese:

Síndrome de Angelman
Deficiência da Argininosuccinato Liase
Displasia arritmogênica do ventrículo direito
Artrogripose múltipla congênita
Síndrome de Beals

Thanks to our dedicated Czech colleagues, you find 20 more translations into Czech on our website!

We are happy to present a new recommendation, on Phenylketonuria and other hyperphenylalaninemias

We are happy to offer now 4 more recommendations in Portuguese:

Acute adrenal insufficiency - Insuficiencia adrenal aguda

Allgrove syndrome - Sindrome de Allgrove

Alpha-mannosidosis - Alpha-mannosidose

Andersen disease - doença de Andersen

We are very happy to present you 4 more translations into Portuguese, on:

22q11.2 deletion syndrome - sindrome de deleção do 22q11.2

3MC syndrome/ Michels syndrome - sindrome de 3MC

3-M syndrome - sindrome 3-M

Ellis-van Creveld syndrome - sindrome de Ellis-van Creveld

The joint efforts of Czech anaesthesiologists have made it possible that we now can offer 60 of our recommendations in Czech. Thanks to the dedicated translators!

We are happy to offer another Portuguese translation: Tetralogia de Fallot.

We are happy to offer here new translations into German of the recommendations on Brugada-Syndrom and Osteogenesis Imperfecta

We are happy to offer now a recommendation on Dubowitz syndrome to you.

Due to the joint efforts of several Czech colleagues, we are able to offer now 20 recommendations in Czech. We are very happy with this and say thank you very much for this valuable contribution!

Please find here a new recommendation, on Kennedy disease. Thanks to the dedicated French patient organisation, we can offer this also in French.

Find here the recommendation on Insulinoma. Many thanks to the author, and the reviewers!

Please find here new translations into Italian, thanks to the Italian colleagues:

Kabuki syndrome - Sindrome di Kabuki

Wolf-Hirschhorn syndrome - Sindrome di Wolf-Hirschhorn

Moyamoya disease - Moyamoya

Please find here German translations of Ehlers-Danlos syndrome and of Fabry disease. Thanks to the dedicated translators!

The coming saturday is Rare Disease Day. Since 2009, the last day of February is celebrated as Rare Disease Day. Find more information on www.rarediseaseday.org. We invite you to spread information on this, and make people more aware.

And we thank you that you make it possible for us to present more and more recommendations on rare diseases.

We are very happy to offer here 4 new translations into Portuguese, on

Kartagener syndrome - Síndrome de Kartagener

Central core disease - Miopatia Central Core

Amniotic band syndrome - Síndrome da Banda Anmiotica

Crouzon syndrome - Síndrome de Crouzon

Thanks to all supporters!

Please find here 7 recommendations now also in Spanish:

Cystic fibrosis - Fibrosis quistica

Haemophilia A - Hemofilia A

Hunter syndrome - Síndrome de Hunter

Sickle cell diesease - Enfermedad de celulas falciformes

Systemic sclerosis - Esclerosis sistemica

Tetralogy of Fallot - Tetralogia de Fallot

We say thank you to all the Spanish supporters who made this possible. Gracias!

We are happy to offer two new recommendations - on Infantile neuroaxonal dystrophy and on Williams syndrome.

Please find here the new recommendations on Situs inversus totalis and on Phelan-McDermid sdyndrome

We have succeded in creating a Spanish version of OrphanAnesthesia - you find the button with the German and the English one up on the left side. We are very happy that this was made possible by the German Society of Anaesthesiology and Intensive Care Medicine and by our Spanish contributors, and we hope that this makes the recommendations still more accessible all over the world.

Thanks to all the supporters of the project OrphanAnesthesia in the last years, we are now offering anaesthesiolgical recommendations on more than 180 rare diseases, and in up to 4 languages. And the project grows, making patients with rare diseases all over the world a little bit safer. We are proud of this achievement that so many people in so many countries have been accomplishing.

We wish all of you a peaceful Christmas time, and a happy New Year!

The OrphanAnesthesia team

We are happy to offer here a new recommendation: Dyskeratosis congenita.

We are happy to present now the Patient Safety Card in more languages.

Please find here new translations into Italian for:

Sindrome di Apert

Sindrome di Pfeilffer

Many thanks to the dedicated Italian supporters!

Thanks to the dedicated Spanish team, we have now 4 more Spanish versions of recommendations:

Síndrome de Marfan

Síndrome de Ehlers-Danlos

Síndrome de Eisenmenger

Preeclampsia

Wer are happy to offer a recommendation on Sjögren-Larsson syndrome now.

Please find here the updated versions on Osteogenesis imperfecta and on Ehlers-Danlos syndrome. Thanks to the dedicated authors!

Please find here a new translation intos Spanish of Immune thrombocytopenia: Trombocitopenia Immune.

We are happy to offer a new recommendation to you on Hamamy syndrome. Thank you to authors and reviewers!

Please find here the recommendation on Fabry disease.

We are happy to offer now a Portuguese translation on Achondroplasia - Acondroplasia - and a Spanish translation on 3MC syndrome (Michels syndrome) - síndrome de 3MC - síndrome de Michels - and on Xeroderma pigmentosum.

Anyone else ready to create a translation - just contact us!

Please find here a new recommendation on: Multiple myeloma.

The following recommendations were updated by the authors:

    Hallermann-Streiff syndrome

    Central core disease

    Duchenne muscular dystrophy

The German version, also, has been updated. We say thank you for the continuing dedication

We are happy to present here a German translation of CADASIL and a German translation of Mucolipidosis type 2 and 3.

Please find here a new recommendation on PURA syndrome. We say thank you to the authors and reviewers!

We are happy to present a new recommendation on Giant axonal neuropathy. Thanks to the author and the reviewers!

Find here the first French translation on the OrphanAnesthesia website: Paralysie Spastique Familiale - Hereditary spastic paraplegia.

Our thanks to the dedicated translator.

And welcome to all who are ready to translate more - just contact us.

We are happy to present a new recommendation on Pierre Robin sequence.

Please find here the translation of Apert syndrome into Portuguese: Sindrome de Apert,

and here the translation of MYH9 related disease into Italian: Malattia correlata MYH9.

Thanks to the dedicated translators!

Please find here the updated recommendation on Joubert syndrome, both in English and German.

Please find a new recommendation online on Distal arthrogryposis type 1.

Find here the new translations of Liddle's disease (Liddle-Syndrom) and Glycogen storage disease type I (Glykogenspeicherkrankheit Typ I) into German.

Please find the new translations on Alport syndrome - Sindrome di Alport - into Italian, and on Angelmann syndrome - Angelmann-Syndrom - into German.

Please find the new recommendation on Lujan-Fryns syndrome on our website.

Please find the new recommendation on Nager's syndrome online.

Please find the update of the recommendation on Mucolipidosis type2 and type 3 online. Thanks to the author and the reviewer!

Please find the new Portuguese translation of Rubinstein-Taybi syndrome.

Please find the new recommendation on Preeclampsia on our website.

Please find a new recommendation online on Leprosy.

Please find here the updated recommendations on Myasthenia gravis and on Welander distal myopathy. We would like to thank the authors for their ongoing support.

Please find the new recommendation on Congenital pulmonary airway malformation online.

Please find the recommendation on Hereditary spastic paraplegia (Strumpell-Lorrain syndrome) online on this website.

Please find a new recommendation on Xeroderma pigmentosum on our website.

Please find the new recommendation on MYH9-related disease online, as well as the update on CADASIL.Many thanks to the dedicated authors and reviewers!

Please find a new recommendation on Andersen disease on our website.

Please find the new recommendation online on 3MC syndrome - Michels syndrome.

Thanks to the Gruppo di Studio Anestesia e Malattie Rare, SARNePI, Italia, we now have not only the English update, but also the Italian update of Angelman syndrome: Sindrome di Angelman.

We are happy to present the updated version of the recommendation on Multiminicore disease. Many thanks to the author!

Please note that the Spanish translation is not yet updated, as indicated by the date; we are working on it.

Please find here the German version of Mitochondrial disorders: Mitochondriopathien.

The recommendation on Angelman syndrome has been updated now.

Please note that the Italian translation is not yet updated. If you know someone who would be ready to do this, please contact us: This email address is being protected from spambots. You need JavaScript enabled to view it.. Thank you!

Thanks to the dedicated authors, we have now updates for the recommendations on ROHHAD and on Arthrogryposis multiplex congenita.

Please find the new recommendation on pdf Wolf Hirschhorn syndrome (152 KB) on our website.

We now have received an update on the recommendation for Alpha-mannosidosis.

Please find the update on the recommendation for Kasabach-Merritt syndrome.

Please find a new recommendation online: Kleefstra syndrome.

We now can offer translations into German for:

• Beals syndrome
• Fucosidosis

And there are more translations to come!

We are happy to publish a new recommendation on:

Schwartz-Jampel syndrome

We are happy to present you 2 new recommendations:

Sheldon-Hall syndrome
Distal arthrogryposis type 3

We are happy to present you now the Spanish Translation of Biliary atresia:
Atresia Biliar

Many thanks to the dedicated translators.

Find 2 more recommendations in Spanish:

Cerebrotendinous xanthomatosis - Xantomatosis cerebrotendinosa
Beals syndrome - Sindrome de Beals

Please find our new recommendation on anaesthesia with Beals syndrome.

• Síndrome de bridas amnióticas (Amniotic band syndrome)
• Enfermedad de Behcet (Behcet's disease)
• Dermatomiositis (Dermatomyositis)
• Síndrome de Kartagener (Kartagener syndrome)

• Autism
• Walker-Warburg syndrome
• Becker's disease - Myotonia congenity recesiva

• Argininosuccinate lyase deficiency -  deficiencia de Argininosuccinatoliasa
• Arthrogryposis multiplex congenita - Artrogriposis múltiple congénita
• De Barsy syndrome - sindrome de De Barsy

• Freeman-Burian syndrome
• Rubinstein-Taybi syndrome
• Walker-Warburg syndrome

• de Barsy syndrome
• Niemann Pick type C
• Behcet’s disease
• Congenital diaphragmatic hernia
• Kartagener syndrome
• Gaucher syndrome
• Systemic onset juvenile idiopathic arthritis
• McArdle disease

 New anaesthesia guidelines have been published online for the following rare diseases:

• McCune Albright syndrome
• Klippel-Trénaunay syndrome
• Cerebrotendinous xanthomatosis
• Erdheim-Chester disease
• campomelic dysplasia
• Larsen syndrome
• Huntingtons' disease
• trisomy 18
• biliary artresia

There is a bunch of new anaesthesia guidelines available. The latest ones include: 
 

• Miller-Dieker syndrome
• Bullous pemphigoid
• stress cardiomyophathy
• deletion 9p syndrome
• Stickler syndrome
• Inclusion body myositis 

Thanks to all the useful work of the authors and reviewers our project continues to grow more and more. Up to now, there are 130 anaesthesia guidelines for rare diseases available. 

Und wie geht es Ihnen?

Die bisherigen Schwerpunkte von OrphanAnesthesia liegen in der Erstellung von Handlungsempfehlungen „durch Ärzte für Ärzte“. Aber wie ergeht es Patienten und deren Angehörigen bei Narkosen? Wir glauben, dass wir die Versorgung bei seltenen Erkrankungen nochmals wesentlich verbessern können, wenn wir mehr über Ihre persönlichen Erfahrungen lernen.
 
Wir haben unter der Adresse:  https://www.soscisurvey.de/patientsafetycard-dgai eine Befragung von ca. 5-10 Minuten Dauer vorbereitet, die hierzu Klarheit schaffen wird. Dabei richtet sich der Fragebogen auch an Betroffene, die bislang keine Narkose erhalten mussten.
 
Wir danken bereits jetzt für Ihre Teilnahme an unserer Befragung und freuen uns über Ihre Kritik und Anregungen. Bitte kontaktieren Sie uns unter: This email address is being protected from spambots. You need JavaScript enabled to view it..

Weitere Informationen unter: Patienteninfoschreiben

Starting from April 2016, we offer a new "patient safety card" for all hospitals, patients and support groups dealing with rare diseases. 
Patients or doctors can fill-in the specific name of the rare disease. 

The card is made to alert the anesthesiologist to problems that might occured during anesthesia of a patient with a rare disease. The card should be given to the anesthesiologist before anesthesia. It should be carried by the holder in case of emergency surgery. 

The anesthesiologist will be able to get informed of our OrphanAnesthesia recommendations before anesthesia. 

The patient safety card is editable and ready-to print. It can be downloaded at: 

 Patient Safety Card