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.


22q11.2 deletion syndrome

22q11.2 deletion syndrome ( 3 Files )

Disease name: 22q11.2 deletion syndrome

ICD 10: D82.1 (DiGeorge-syndrome), Q93.81 (velo-cardio-facial syndrome)

Synonyms: DiGeorge-syndrome, velocardiofacial-syndrome (VCFS), Shprintzen-syndrome, “CATCH-22”-syndrome, conotruncal anomaly face syndrome, Takao syndrome
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 ( 4 Files )

Disease name: Achondroplasia

ICD 10: Q77.4

Synonyms: Chondrodysplasia, Chondrodystrophia fetalis
Acute adrenal insufficiency

Acute adrenal insufficiency ( 2 Files )

Disease name: Acute adrenal insufficiency

ICD 10: E27.1-E27.4

Synonyms: Addisonian crisis

Alkaptonuria ( 2 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

Arrhythmogenic right ventricular dysplasia

Arrhythmogenic right ventricular dysplasia ( 1 Files )

Disease name: Arrhythmogenic right ventricular dysplasia

ICD 10: I42.8
Synonyms: arrhythmogenic right ventricular cardiomyopathy
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
Autism spectrum disorder

Autism spectrum disorder ( 1 Files )

Disease name: Autism spectrum disorder (ASD)

ICD 10: F84: Pervasive development disorder; F84.0: Autistic disorder; F84.2: Rett's syndrome (not part of ASD); F84.3: Other childhood disintegrative disorder; F84.5: Asperger's syndrome; F84.8: Other pervasive development disorders; F84.9: Pervasive development disorder, unspecified

Synonyms: Autistic disorder, childhood autism, pervasive developmental disorder (not otherwise specified), atypical autism, Asperger syndrome, high-functioning autism
Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome ( 1 Files )

Disease name: Beckwith–Wiedemann syndrome

ICD 10: 68730

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

Biotinidase deficiency

Biotinidase deficiency ( 1 Files )

Disease name: Biotinidase deficiency

ICD 10: E53.8

Synonyms: Late-Onset Biotin-aesponsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency
Bronchopulmonary dysplasia

Bronchopulmonary dysplasia ( 1 Files )

Disease name: Bronchopulmonary dysplasia

ICD 10: P27.1

Synonyms: Chronic lung disease of prematurity
Brugada syndrome

Brugada syndrome ( 2 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 ( 3 Files )

Disease name: CHARGE syndrome

ICD 10: Q87.8

Synonyms: CHARGE association; Hall-Hittner syndrome

Catecholaminergic polymorphic ventricular tachycardia

Catecholaminergic polymorphic ventricular tachycardia ( 1 Files )

Disease name: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

ICD 10: I47 (Paroxysmal tachycardia), I47.2 (Ventricular tachycardia), ORPHA3286

Synonyms: Catecholamine-induced polymorphic ventricular tachycardia, bidirectional tachycardia induced by catecholamines, familial polymorphic ventricular tachycardia (FPVT),stress-induced polymorphic ventricular tachycardia
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 ( 3 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

Collagen VI-related myopathy

Collagen VI-related myopathy ( 2 Files )

Disease name: Collagen VI-related myopathy

ICD 10: G71

Synonyms/Spectrum of phenotypes: 
Mild: Bethlem myopathy/ benign congenital muscular dystrophy
Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy
Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy
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

Costello syndrome

Costello syndrome ( 1 Files )

Disease name: Costello syndrome

ICD 10: Q87.8

Synonyms: Significant phenotypical overlap with CFC (cardiofaciocutaneous syndrome) 
Crouzon syndrome

Crouzon syndrome ( 1 Files )

Disease name: Crouzon syndrome

ICD 10: Q75.1

Synonyms: Craniofacial dysostosis, first branchial arch syndrome
Cystic fibrosis

Cystic fibrosis ( 2 Files )

Disease name: Cystic fibrosis

ICD 10: E84.0

Synonyms: Mucoviscidosis

Dermatomyositis ( 1 Files )

Disease name: Dermatomyositis

ICD 10: M33.90

Synonyms: Adult dermatomyositis, polymyositis, idiopathic inflammatory myopathy, juvenile dermatomyositis (onset < 18 yrs)
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

Eisenmenger's syndrome

Eisenmenger's syndrome ( 1 Files )

Disease name: Eisenmenger's syndrome

ICD 10: Q21.8

Synonyms: Eisenmenger's disease; Eisenmenger's complex
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: -
Escobar syndrome

Escobar syndrome ( 1 Files )

Disease name: Multiple pterygium syndrome, Escobar variant

ICD 10: Q79.8

Synonyms: Escobar syndrome; pterygium syndrome; multiple pterygium syndrome, non-lethal type; familial pterygium syndrome; pterygium colli syndrome; pterygium universale
Familial Dysautonomia

Familial Dysautonomia ( 1 Files )

Disease name: Familial Dysautonomia

ICD 10: G90.1

Synonyms: Riley-Day syndrome, Hereditary Sensory and Autonomic Neuropathy Type III, HSAN III, HSAN3, HSN-III

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
Friedreich's Ataxia

Friedreich's Ataxia ( 1 Files )

Disease name: Friedreich’s Ataxia

ICD 10: G11.1

Synonyms: -
Glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase deficiency ( 2 Files )

Disease name: Glucose-6-phosphate dehydrogenase deficiency

ICD 10: D55.0

Synonyms: Favism, G6PD deficiency, Glucosephosphate Dehydrogenase Deficiency
Glycogen Storage Disease Type I

Glycogen Storage Disease Type I ( 1 Files )

Disease name: Glycogen storage disease type I

ICD 10: E74.0

Synonyms: von Gierke disease, Glycogenosis type I, Glucose-6-phosphatase deficiency, GSD-I
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
Gomez-Lopez-Hernandez syndrome

Gomez-Lopez-Hernandez syndrome ( 1 Files )

Disease name: Gomez-Lopez-Hernandez syndrome

ICD 10: Q07.8

Synonyms: Cerebellotrigeminal dermal dysplasia
Hallermann Streiff

Hallermann Streiff ( 1 Files )

Disease name: Hallermann-Streiff syndrome

ICD 10: - 

Synonyms: Francois dyscephaly syndrome, oculo mandibulo dyscephaly

Harlequin ichthyosis

Harlequin ichthyosis ( 1 Files )

Disease name: Harlequin ichthyosis

ICD 10: Q80.4

Synonyms: Harlequin baby, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus, Ichthyosis congenita gravior

Homocystinuria ( 1 Files )

Disease name: Homocystinuria

ICD 10: E72.11

Synonyms: Homocystinemia, classical homocystinuria, cystathionine b-synthase
deficiency, CBS deficiency
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 ( 2 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


Kabuki syndrome

Kabuki syndrome ( 1 Files )

Disease name: Kabuki syndrome

ICD 10: Q87.0

Synonyms: Kabuki make-up syndrome, Niikawa-Kuroki syndrome
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
Liddle’s Syndrome

Liddle’s Syndrome ( 1 Files )

Disease name: Liddle’s Syndrome

ICD 10: I15.1

Synonyms: Pseudohyperaldosteronism
Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy ( 2 Files )

Disease name: Limb-girdle muscular dystrophy

ICD 10: G71.0

Synonyms: -
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

Maple syrup urine disease

Maple syrup urine disease ( 1 Files )

Disease name: Maple syrup urine disease

ICD 10: E71.0

Synonyms: MSUD, branched-chain ketoaciduria, branched-chain-alpha-ketoacid
dehydrogenase deficiency, BCKD deficiency, BCKDH deficiency, ketoacid decarboxylase deficiency
Marfan Syndrome

Marfan Syndrome ( 1 Files )

Disease name: Marfan syndrome

ICD 10: Q87.4

Synonyms: Marfan's syndrome

Maroteaux Lamy syndrome

Maroteaux Lamy syndrome ( 1 Files )

Disease name: Maroteaux Lamy syndrome

ICD 10: E76.29

Synonyms: Mucopolysaccharidosis Type VI; MPS VI; arylsulfatase B (ARSB) deficiency
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
Moebius syndrome

Moebius syndrome ( 1 Files )

Disease name: Moebius syndrome

ICD 10: Q87.0

Synonyms: Congenital facial diplegia (Congenital oculofacial paralysis, Mӧbius syndrome, Moebius sequence, MBS
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 ( 3 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
Neuromyelitis optica spectrum disorder

Neuromyelitis optica spectrum disorder ( 1 Files )

Disease name: Neuromyelitis optica spectrum disorder

ICD 10: G36.0

Synonyms: Devic's Disease, Devic's Syndrome, Neuromyelitis optica, NMO, NMOSD
Neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis ( 1 Files )

Disease name:  Neuronal ceroid lipofuscinoses (NCL)

ICD 10: E75.4

Synonyms: Historically, single NCL forms have been classified according to infantile, lateinfantile, juvenile or adult onset and associated with names of investigators such as Santavuori-Haltia, Jansky-Bielschowsky, Batten, Spielmeyer-Vogt, Kufs
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


Osteopetrosis ( 1 Files )

Disease name: Osteopetrosis

ICD 10: Q78.2

Synonyms: Marble bone disease, Albers-Schönberg disease, osteosclerosis, fragilitas generalisata, osteopetrosis generalisata
Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration ( 1 Files )

Disease name: Pantothenate kinase-associated neurodegeneration 

ICD 10: G23.0

Synonyms: Hallervorden-Spatz disease; neurodegeneration with brain iron accumulation type 1
Paroxysmal nocturnal haemoglobinuria

Paroxysmal nocturnal haemoglobinuria ( 1 Files )

Disease name: Paroxysmal nocturnal haemoglobinuria (PNH)

ICD 10: D59.6

Synonyms: Marchiafava-Micheli disease; PNH
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

Pfeiffer syndrome

Pfeiffer syndrome ( 1 Files )

Disease name: Pfeiffer syndrome

ICD 10: Q87.0

Snyonyms: ACS5, Acrocephalosyndactyly type V, noack syndrome, cranio-facialdermatological dysplasia

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

Pompe disease

Pompe disease ( 1 Files )

Disease name: Pompe disease

ICD 10: E74.0

Synonyms: Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease type 2, GSD type 2, acid maltase deficiency, alpha–1, 4–glucosidase acid deficiency, glycogenosis due to acid maltase deficiency, glycogenosis type 2, acid alphaglucosidase (GAA) deficiency, GAA deficiency

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

Proteus syndrome

Proteus syndrome ( 1 Files )

Disease name: Proteus Syndrome

ICD 10: Q87.3
Synonyms: Wiedemann Syndrome, Elephant man disease

ROHHAD ( 1 Files )

Disease name: ROHHAD

ICD 10: -

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

Rett syndrome

Rett syndrome ( 1 Files )

Disease name: Rett syndrome 

ICD 10: F84.2

Synonyms: Autistic disorder (F84.0)
Russel-Silver syndrome

Russel-Silver syndrome ( 1 Files )

Disease name: Russel-Silver syndrome

ICD 10: Q87.1

Synonyms: Silver-Russell-Syndrome

Russell-Silver dwarfism

Sanfilippo disease

Sanfilippo disease ( 2 Files )

Disease name: Sanfilippo disease

ICD 10: E76.2

Synonyms: MPS III, Sanfilippo syndrome, Mucopolisaccaridosi type III
Segawa’s dystonia

Segawa’s dystonia ( 1 Files )

Disease name: Segawa’s dystonia

ICD 10: G24.8

Synonyms: Segawa’s disease, Dopamine-responsive dystonia (DRD),
Hereditary progressive dystonia with diurnal fluctuation, DYT5a dystonia, GTP
cyclohydrolase 1-deficient dopa-responsive dystonia
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
Spinal muscular atrophy

Spinal muscular atrophy ( 1 Files )

Disease name: Spinal muscular atrophy

ICD 10:
G12.0 Infantile spinal muscle atrophy type I
G12.1 Spinal muscle atrophy childhood form type II
G12.1 Spinal muscle atrophy juvenile form type III


Spinal muscle atrophy type l: Werdnig-Hoffmanns disease (SMA l)
Spinal muscle atrophy type ll: Dubowitz disease (SMA ll)
Spinal muscle atrophy type lll: Kugelberg-Welanders disease (SMA lll)

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)

Sturge-Weber syndrome

Sturge-Weber syndrome ( 1 Files )

Disease name: Sturge-Weber syndrome

ICD 10: Q85.8

Synonyms:  Dmitri disease, encephalofacial angiomatosis, enchephalotrigeminal
angiomatosis, fourth phacomatosis, leptomeningeal angiomatosis, meningeal capillary angiomatosis, Sturge-Kalischer-Weber syndrome, SWS, SWS type 1-facial and leptomeningeal angiomas, SWS type 2 - facial angioma alone - no CNS involvement, SWS type 3 - isolated leptomeningeal angiomas
Stüve-Wiedemann syndrome

Stüve-Wiedemann syndrome ( 1 Files )

Disease name: Stüve-Wiedemann syndrome

ICD 10: Q78.8

Synonyms: In older literature also known as Schwartz-Jampel type 2 syndrome
Systemic sclerosis

Systemic sclerosis ( 1 Files )

Disease name: Systemic sclerosis

ICD 10: M34.0

Synonyms: Progressive systemic sclerosis, Scleroderma, CREST syndrome

TAR-syndrome ( 1 Files )

Disease name: Thrombocytopenia- Absent Radius (TAR) syndrome

ICD 10: Q87.2

Synonyms: Absent radii and thrombocytopenia, Thrombocytopenia absent radii,
Thrombocytopenia absent radius syndrome, Radial Aplasia Amegakaryocytic
Thrombocytopenia, Radial Aplasia Thrombocytopenia Syndrome, Radial Aplasia-
Amegakaryocytic Thrombocytopenia, TAR Syndrome
Tetralogy of Fallot

Tetralogy of Fallot ( 1 Files )

Disease name: Tetralogy of Fallot

ICD 10: Q21.3

Synonyms: Fallot's tetralogy
Timothy syndrome

Timothy syndrome ( 1 Files )

Disease name: Timothy syndrome

ICD 10: I45.8

Synonyms: LQT8, Long QT syndrome type 8, Long QT syndrome-syndactly syndrome
Tracheal agenesis

Tracheal agenesis ( 1 Files )

Disease name: Tracheal agenesis, Tracheal atresia

ICD 10: Q32.4

Synonyms: -
Treacher Collins syndrome

Treacher Collins syndrome ( 2 Files )

Disease name: Treacher Collins syndrome

ICD 10:  Q75.4

Synonyms: Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome
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
Waardenburg syndromes

Waardenburg syndromes ( 1 Files )

Disease name: Waardenburg syndromes

ICD 10: Q87.8

Synonyms: Waardenburg syndrome type I, type II, type III and type IV
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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