a project of the German Society of Anesthesiology and Intensive Care Medicine



Published Guidelines

Anesthesia guidelines for the following rare diseases are available. All guidelines are peer-reviewed and reflect the best evidence available. Please remember that most diseases are infrequent, i. e. not all questions can be answered definitely and patients can still react different than expected.

All guidelines are published in English. In some cases you will also find translations. We appreciate any effort to help preparing translations for other languages, in order to open this database to a broader community.

For detailed information about the diseases (pathophysiology, treatment options), treatment centres and patient organisations we refer to Orphanet. Please go to www.orpha.net to find more information about more than 5.000 rare diseases.


3-M syndrome

3-M syndrome ( 2 Files )

Disease name: 3M syndrome

ICD 10: Q87.1

Synonyms: Dolichospondylic dysplasia, 3Μ dwarfism, gloomy face syndrome, le Merrer syndrome


Achondroplasia ( 3 Files )

Disease name: Achondroplasia

ICD 10: Q77.4

Synonyms: Chondrodysplasia, Chondrodystrophia fetalis

Alkaptonuria ( 1 Files )

Disease name: Alkaptonuria

ICD 10: E70.2

Synonyms: Hereditary ochronosis, Homogentisate dioxygenase deficiency


Alpha-mannosidosis ( 1 Files )

Disease name: Alpha-mannosidosis

ICD 10: E77.1

Synonyms: Lysosomal alpha-D-mannosidase deficiency, Alpha-Mannosidase B Deficiency

Angelman syndrome

Angelman syndrome ( 1 Files )

Disease name: Angelman syndrome

ICD 10: Q93.5

Synonyms: (Happy) puppet syndrome

Antiphospholipid antibody syndrome

Antiphospholipid antibody syndrome ( 1 Files )

Disease name: Antiphospholipid Antibody Syndrome (APS)

ICD 10: D68.6

Synonyms: Antiphospholipid Syndrome (APS)
Apert syndrome

Apert syndrome ( 1 Files )

Disease name: Apert syndrome

ICD 10: Q87.0

Synonyms: ACS 1, Acrocephalosyndactyly type 1

Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita ( 2 Files )

Disease name: Arthrogryposis multiplex congenita

ICD 10: Q74.32

Synonyms: Arthrogryposis, Amyoplasia Congenita, Congenital Arthromyodysplasia, Guérin-Stern syndrome, Myodystrophia Fetalis Deformans
Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome ( 1 Files )

Disease name: Beckwith–Wiedemann syndrome

ICD 10: 68730

Synonyms: Exomphalos-Macroglossia – Gigantism Syndrome (EMG Syndrome)

Brugada syndrome

Brugada syndrome ( 1 Files )

Disease name: Brugada syndrome

ICD 10: I47.2

Synonyms: SUNDS - Sudden unexplained nocturnal death syndrome, Idiopathic ventricular fibrillation, Pokkuri (Japanese), Bangungut, Lai Tai (Philippines and Southeastern Asia).
CADASIL syndrome

CADASIL syndrome ( 2 Files )

Disease name: CADASIL syndrome

ICD 10: F01 Vascular dementia; F01.2 Subcortical vascular dementia

Synonyms: Dementia, hereditary multi-infarct type, Casil

CHARGE syndrome

CHARGE syndrome ( 1 Files )

Disease name: CHARGE syndrome

ICD 10: Q87.8

Synonyms: CHARGE association; Hall-Hittner syndrome

Central Core Disease

Central Core Disease ( 3 Files )

Disease name: Central Core disease

ICD 10: G71.2

Synonyms: Shy-McGee syndrome
Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease ( 2 Files )

Disease name: Charcot-Marie-Tooth disease

ICD 10: G60.0

Synonyms: Hereditary motor and sensory neuropathy. Includes: Charcot-Marie-Tooth, Déjerine-Sottas, hereditary motor and sensory neuropathy (however this term includes several entities different from Charcot-Marie-Tooth with heterogeneous inheritance), hypertrophic neuropathy of infancy, Peroneal muscular atrophy (axonal type) (hypertrophic type), Roussy-Lévy syndrome

Congenital Central Hypoventilation Syndrome

Congenital Central Hypoventilation Syndrome ( 1 Files )

Disease name: Congenital Central Hypoventilation Syndrome

ICD 10: G47.3

Synonyms: Undine Syndrome, Ondine’s Curse

Crouzon syndrome

Crouzon syndrome ( 1 Files )

Disease name: Crouzon syndrome

ICD 10: Q75.1

Synonyms: Craniofacial dysostosis, first branchial arch syndrome
Duchenne muscular dystrophy

Duchenne muscular dystrophy ( 3 Files )

Disease name: Duchenne muscular dystrophy

ICD 10: G71.2

Synonyms: Dystrophinopathy
Ehlers–Danlos syndrome

Ehlers–Danlos syndrome ( 2 Files )

Disease name: Ehlers–Danlos syndrome

ICD 10: Q79.6

Synonyms: Dystrophinopathy

Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy ( 2 Files )

Disease name: Emery-Dreifuss Muscular Dystrophy (EDMD)

ICD 10: G71.0

Synonyms: Benign Scapuloperoneal Muscular Dystrophy, Hauptmann-Thannhauser Muscular Dystrophy, EDMD 1 (X-linked affecting EMD gene), EDMD 2/3 (autosomal dominant/recessive affecting LMNA gene). Other laminopathies may be phenotypically similar.

Epidermolysis bullosa

Epidermolysis bullosa ( 1 Files )

Disease name: Epidermolysis bullosa

ICD 10: Q81

Synonyms: -
Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva ( 1 Files )

Disease name: Fibrodysplasia Ossificans Progressiva

ICD 10: M61.1

Synonyms: FOP
Fragile X syndrome

Fragile X syndrome ( 1 Files )

Disease name: Fragile X syndrome

ICD 10: Q99.2

Synonyms: FXS, FraX-Syndrome, Marker X Syndrome, Martin-Bell-Syndrome
Fraser syndrome

Fraser syndrome ( 1 Files )

Disease name: Fraser syndrome

ICD 10: Q87.0

Synonyms: Cryptophthalmos syndrome
Glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase deficiency ( 1 Files )

Disease name: Glucose-6-phosphate dehydrogenase deficiency

ICD 10: D55.0

Synonyms: Favism, G6PD deficiency, Glucosephosphate Dehydrogenase Deficiency
Goldenhar syndrome

Goldenhar syndrome ( 1 Files )

Disease name: Goldenhar syndrome

ICD 10: Q87.0

SynonymsOculo-Auriculo-Vertebral (OAV) syndrome / sequence, Facio-Auriculo-Vertebral syndrome, Goldenhar-Gorlin syndrome
Hallermann Streiff

Hallermann Streiff ( 1 Files )

Disease name: Hallermann-Streiff syndrome

ICD 10: - 

Synonyms: Francois dyscephaly syndrome, oculo mandibulo dyscephaly

Hunter syndrome

Hunter syndrome ( 1 Files )

Disease name: Hunter syndrome

ICD 10: E76.1

Synonyms: Mucopolysaccharidosis, Type II; MPS2; Iduronate-2-sulfatase deficiency; IDS deficiency; sulfo-iduronate sulfatase deficiency; SIDS deficiency
Hurler syndrome

Hurler syndrome ( 1 Files )

Disease name: Hurler syndrome

ICD 10: E 76.0

Synonyms: Mucopolysaccharidosis (MPS) I-H, Alpha-L-Iduronidase Deficiency; Pfaundler-Hurler Syndrome
Joubert syndrome

Joubert syndrome ( 1 Files )

Disease name: Joubert syndrome

ICD 10: Q04.3

Synonyms: CPD IV, Cerebelloparenchymal disorder IV, Classic Joubert syndrome, Joubert syndrome type A, Pure Joubert syndrome, Vermis-Agenesia, Joubert-Boltshauser syndrom


Kasabach-Merritt syndrome

Kasabach-Merritt syndrome ( 1 Files )

Disease name: Kasabach-Merritt syndrome

ICD 10: D75.8

Synonyms: haemangioma-thrombopenia syndrome, Kaposiform haemangioendothelioma
Klippel Feil syndrome

Klippel Feil syndrome ( 1 Files )

Disease name: Klippel Feil syndrome

ICD 10: Q76.1

Synonyms: Cervical vertebral fusion, Congenital cervical synostosis, Isolated Klippel-Feil syndrome, KFS
Lamellar ichthyosis

Lamellar ichthyosis ( 1 Files )

Disease name: Lamellar ichthyosis

ICD 10: Q80.2

Synonyms: Autosomal recessive congenital ichthyosis, bathing-suit ichthyosis (limited to the trunk)
Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Hyperostotic Dwarfism ( 1 Files )

Disease name: Lenz-Majewski Hyperostotic Dwarfism
ICD 10: Q 87.1
Synonyms: Dystrophinopathy
Macrophage activation syndrome

Macrophage activation syndrome ( 1 Files )

Disease name: Macrophage activation syndrome

ICD 10: D76.2

Synonyms: haemophagocytic lymphohistiocytosis, reactive haemophagocytic syndrome, hemophagocytic syndrome

Malignant Hyperthermia

Malignant Hyperthermia ( 2 Files )

Disease name: Malignant Hyperthermia

ICD 10: T88.3

Synonyms: Malignant Hyperpyrexia

Marfan Syndrome

Marfan Syndrome ( 1 Files )

Disease name: Marfan syndrome

ICD 10: Q87.4

Synonyms: Marfan's syndrome

Merosin-deficient congenital muscular dystrophy

Merosin-deficient congenital muscular dystrophy ( 2 Files )

Disease name: Merosin-deficient congenital muscular dystrophy

ICD 10: G71.0

Synonyms: Complete merosin deficient congenital muscular dystrophy, Congenital muscular dystrophy with primary laminin 2 (merosin) deficiency, Merosin negative congenital muscular dystrophy, LAMA-2 related muscular dystrophy (early and late onset LAMA-2 deficiency), Congenital muscular dystrophy, type 1A, MDCA1A
Mitochondrial disease

Mitochondrial disease ( 1 Files )

Disease name: Mitochondrial Cytopathy, Mitochondrial Myopathy, Mitochondrial

ICD 10: G731.81

Synonyms: Mitochondrial diseases with typical combinations of clinical symptoms: Kearns-Sayre syndrom, progressive external ophthalmoplegia, Pearson syndrome, myoclonic epilepsy with ragged red fibers (MERFF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), neuropathy with ataxia and retinitis pigmentosa, maternally inherited Leigh syndrome, Leber's hereditary optic neuropathy, Leigh disease, POLG1 associated disorders, mtDNA depletion syndromes
Morquio syndrome

Morquio syndrome ( 1 Files )

Disease name: Morquio Syndrome

ICD 10: E76.219

Synonyms: Morquio-Brailsford Syndrome; Mucopolysaccharidosis IV; MPS IV type IVA
Mounier-Kuhn syndrome

Mounier-Kuhn syndrome ( 2 Files )

Disease name: Mounier-Kuhn syndrome

ICD 10: Q32.4; Q32.1

- With bronchiectasis: J47
- Exacerbation (acute): J47
- Lower respiratory infection: J47
- Acquired: J98.09 - With bronchiectasis: J47
- With exacerbation (acute): J47
- With lower respiratory infection: J47.0

Synonyms: Tracheobronchomegaly, trachiectasis, tracheobronchomalacia, and multiple tracheal diverticula.


Moyamoya disease

Moyamoya disease ( 1 Files )

Disease name: Moyamoya disease

ICD 10: I67.5

Syonyms: Moyamoya means "something hazy, like a puff of cigarette smoke" in Japanese. It is also referred to as progressive intracranial occlusive arteriopathy. 
Mucolipidosis type 2 and 3

Mucolipidosis type 2 and 3 ( 1 Files )

Disease name: Mucolipidosis Type 2 and 3

ICD 10: E77.0

Synonyms: Mucolipidosis type 2 - I-cell disease
                                                        N-acetyl-glucosamine 1-phosphotransferase deficiency
                     Mucolipidosis type 3 - Pseudo-Hurler polydystrophy
Multiminicore disease

Multiminicore disease ( 2 Files )

Disease name: Multiminicore disease

ICD 10: G71.2

Synonyms: MmD, Multi-minicore disease, Minicore myopathy, Multicore myopathy,

Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore disease with external opthalmoplegia, SEPN1-related congenital muscular dystrophy, rigid spine syndrome, Rigid Spina Muscular Dystrophy.

Myasthenia gravis

Myasthenia gravis ( 1 Files )

Disease name: Myasthenia gravis (MG)
ICD 10: G70.0
Synonyms: Myasthenia gravis (juvenile and adult form) autoimmune (receptor-binding antibodies)
Myotonic Dystrophies type 1 and 2

Myotonic Dystrophies type 1 and 2 ( 2 Files )

Disease name: Myotonic dystrophies type 1 and 2

ICD 10: G71.1

Synonyms: Curshmann-Batten-Steinert disease, Proximal myotonic myopathy (PROMM)
Neurofibromatosis Type 2

Neurofibromatosis Type 2 ( 1 Files )

Disease name: Neurofibromatosis Type 2

ICD 10: Q85.02

Synonyms: NF2
Noonan syndrome

Noonan syndrome ( 1 Files )

Disease name: Noonan syndrome

ICD 10: Q87.1

Synonyms: -
Osteogenesis imperfecta

Osteogenesis imperfecta ( 1 Files )

Disease name: Osteogenesis imperfecta

ICD 10: Q78.0

Synonyms: brittle bone disease, Lobstein syndrome

Pena-Shokeir syndrome

Pena-Shokeir syndrome ( 1 Files )

Disease name: Pena-Shokeir syndrome

ICD 10: Q87.8

Synonyms: Pena-Shokeir syndrome, Type I (OMIM 208150). Fetal akinesia sequence. Arthrogryposis multiplex congenita with pulmonary hypoplasia


Phocomelia ( 1 Files )

Disease name: Phocomelia

ICD 10: Q71.1 (phocomelia upper limb), Q72.1 (phocomelia lower limb), Q73.1 (phocomelia unspecified limb)

Synonyms and associated diseases: Roberts SC-Phocomelia Syndrome, Roberts Tetraphocomelia Syndrome, SC Phocomelia Syndrome, Pseudo-thalidomide Syndrome, Tetraphocomelia Syndrome, DK Phocomelia, Fuhrman syndrome, Holt-Oram syndrome, Steinfeld syndrome


Porphyria ( 1 Files )

Disease name: Porphyria

ICD 10: E80.0; E80.1; E80.2

Synonyms: ALA dehydratase deficiency porphyria (ADP), Acute intermittent porphyria (AIP), Congenital erythopoietic porphyria (CEP), Erythropoietic protoporphyria (EPP), Hereditary coproporphyria (HCP) Porphyria cutanea (PCT), Plumboporphyria (PP) Variegate porphyria (VP), X-linked protoporphyria (XLP)
Prader-Willi syndrome

Prader-Willi syndrome ( 2 Files )

Disease name: Prader-Willi syndrome

ICD 10: Q87.1

Synonyms: Prader-Labhardt-Willi syndrome


ROHHAD ( 1 Files )

Disease name: ROHHAD

ICD 10: -

Synonyms: Rapid onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction

Russel-Silver syndrome

Russel-Silver syndrome ( 1 Files )

Disease name: Russel-Silver syndrome

ICD 10: Q87.1

Synonyms: Silver-Russell-Syndrome

Russell-Silver dwarfism

Sickle cell disease

Sickle cell disease ( 2 Files )

Disease name: Sickle Cell Disease

ICD 10: D57.1

Synonyms: Sickle Cell Anemia, Sickle-Hemoglobin C Disease, Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia

Smith-McCort dysplasia

Smith-McCort dysplasia ( 1 Files )

Disease name: Smith-McCort Dysplasia (SMC)

ICD 10: -

Smith-McCort dwarfism, Orpha no: ORPHA178355
Stiff person syndrome

Stiff person syndrome ( 3 Files )

Disease name: Stiff person syndrome (SPS) 

ICD 10: G25.8

Synonyms: Moersch and Woltman syndrome, stiff limb syndrome, stiff trunk syndrome, PERM (progressive encephalomyelitis with rigidity and myoclonus)

VACTERL association

VACTERL association ( 1 Files )

Disease name: VACTERL association 

ICD 10: Q87.2

Synonyms: VATERS association, VACTERLS association, VACTERL association
(ORPHA887), VATER association (ORPHA887), VATER syndrome, ORPHA887. 
Von Willebrand disease

Von Willebrand disease ( 1 Files )

Disease name: Von Willebrand disease

ICD 10: D68.0

Synonyms: Inherited bleeding disorder
Welander distal myopathy

Welander distal myopathy ( 2 Files )

Disease name: Welander distal myopathy

ICD 10: G71.0

Synonyms: late adult onset type 1 distal myopathy; distal myopathy, Swedish type

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