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



Published Recommendations

Anaesthesia recommendations for the following rare diseases are available. All guidelines are peer-reviewed and reflect the best evidence available. Please note that most diseases are infrequent, i.e. not all questions can be answered definitely and patients may still react differently than expected.
All recommendations are published in English. In some cases, there are translations. We appreciate any effort to help prepare translations for other languages in order to open this database to a broader community.
For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find 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

Allgrove syndrome

Allgrove syndrome ( 3 Files )

Disease name:   Allgrove Syndrome
ICD 10:  E27.4
Synonyms: Triple A syndrome, 4 A Syndrome, Achalasia-Addisonianism-Alacrima syndrome

Alpha-mannosidosis ( 2 Files )

Disease name: Alpha-mannosidosis

ICD 10: E77.1

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

Alport syndrome

Alport syndrome ( 2 Files )

Disease name: Alport syndrome

ICD 10: Q87.81

Synonyms: Hereditary nephritis
Amniotic band syndrome

Amniotic band syndrome ( 2 Files )

Disease name: Amniotic band syndrome
ICD 10: P02.8
Synonyms: Amniotic band constriction, ADAM complex (amniotic deformities, adhesion, mutilation), amniotic band sequence, congenital constriction bands, pseudoainhum, limb body wall complex, amniotic disruption complex, annular grooves, congenital amputation, Streeter bands, Streeter anomaly, transverse terminal defects of limb, aberrant tissue bands, amniochorionic mesoblastic fibrous strings, amniotic bands
Angelman syndrome

Angelman syndrome ( 2 Files )

Disease name: Angelman syndrome

ICD 10: Q93.5

Synonyms: (Happy) puppet syndrome

Antiphospholipid antibody syndrome

Antiphospholipid antibody syndrome ( 2 Files )

Disease name: Antiphospholipid Antibody Syndrome (APS)

ICD 10: D68.6

Synonyms: Antiphospholipid Syndrome (APS)
Apert syndrome

Apert syndrome ( 2 Files )

Disease name: Apert syndrome

ICD 10: Q87.0

Synonyms: ACS 1, Acrocephalosyndactyly type 1

Argininosuccinate Lyase Deficiency

Argininosuccinate Lyase Deficiency ( 2 Files )

Disease name:  Argininosuccinate Lyase Deficiency
ICD 10: E72.2

Synonyms: ASA deficiency, ASL deficiency, Argininosuccinase deficiency, Argininosuccinatelyase deficiency, argininosuccinic acid lyase deficiency
Arrhythmogenic right ventricular dysplasia

Arrhythmogenic right ventricular dysplasia ( 2 Files )

Disease name: Arrhythmogenic right ventricular dysplasia

ICD 10: I42.8
Synonyms: arrhythmogenic right ventricular cardiomyopathy
Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita ( 3 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 ( 2 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
Beals syndrome

Beals syndrome ( 2 Files )

Disease name: Beals Syndrome

ICD 10:  Q68.8

Synonyms:  Congenital contractural arachnodactyly (CCA), Beals syndrome, Beals-Hecht syndrome.
Becker’s disease

Becker’s disease ( 2 Files )

Disease name: Recessive myotonia congenita

ICD 10: G71.1

Synonyms: Becker’s disease
Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome ( 1 Files )

Disease name: Beckwith–Wiedemann syndrome

ICD 10: 68730

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

Behcet’s disease

Behcet’s disease ( 2 Files )

Disease name: Behcet’s disease
ICD 10: M 35.2
Synonyms: Behcet’s syndrome, BD
Biliary atresia

Biliary atresia ( 2 Files )

Disease name: Biliary atresia
ICD 10: Q44.2
Synonyms: Extrahepatic biliary atresia, familial extrahepatic biliary atresia, idiopathic extrahepatic biliary atresia
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).
Bullous pemphigoid

Bullous pemphigoid ( 2 Files )

Disease name: Bullous Pemphigoid (BP)
ICD 10: L12.0

Synonyms: - 
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

Campomelic dysplasia

Campomelic dysplasia ( 1 Files )

Disease name: Camp(t)omelic dysplasia

ICD 10: Q87.1

Synonyms: Camp(t)omelic dwarfism, Camp(t)omelic syndrome,
Certain phenotypes are named: acamp(t)omelic camp(t)omelic dysplasia
Catecholaminergic polymorphic ventricular tachycardia

Catecholaminergic polymorphic ventricular tachycardia ( 2 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
Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis ( 2 Files )

Disease name: Cerebrotendinous xanthomatosis
ICD 10: E75.5
Synonyms: cerebrotendinous xanthomatosis, CTX, cerebral cholesterosis
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

Coffin-Siris syndrome

Coffin-Siris syndrome ( 1 Files )

Disease name: Coffin-Siris syndrome
ICD 10: Q87.1
Synonyms: CSS
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

Congenital diaphragmatic hernia

Congenital diaphragmatic hernia ( 1 Files )

Disease name: Congenital Diaphragmatic Hernia (CDH)
ICD 10: Q 79.0
Synonyms: CDH (congenital diaphragmatic hernia)
Congenital hypothyroidism

Congenital hypothyroidism ( 1 Files )

Disease name: Congenital hypothyroidism

ICD 10:
E03.0 with diffuse goiter
E03.1 without goiter

Synonyms: CH, neonatal hypothyroidism, fetal iodine deficiency disorder
Conjoined twins

Conjoined twins ( 1 Files )

Disease name: Conjoined twins

ICD 10: Q 89.4

Synonyms: Siamese twins

Cornelia-de-Lange syndrome

Cornelia-de-Lange syndrome ( 1 Files )

Disease name: Cornelia de Lange syndrome

ICD 10: Q87.1

Synonyms: De Lange Syndrome, Brachmann – de Lange Syndrome, Typus degenerativus amstelodamensis
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 ( 2 Files )

Disease name: Crouzon syndrome

ICD 10: Q75.1

Synonyms: Craniofacial dysostosis, first branchial arch syndrome
Cyclical vomiting syndrome

Cyclical vomiting syndrome ( 1 Files )

Disease name: Cyclical (or cyclic) vomiting syndrome
ICD 10: G43.A0
Synonyms: Cyclical vomiting, not intractable; persistent vomiting, cyclical; cyclic vomiting, psychogenic
Cystic fibrosis

Cystic fibrosis ( 2 Files )

Disease name: Cystic fibrosis

ICD 10: E84.0

Synonyms: Mucoviscidosis
Deletion 9p syndrome

Deletion 9p syndrome ( 1 Files )

Disease name: Deletion 9p Syndrome
ICD 10: Q93.5
Synonyms: Alfi's Syndrome, 9p minus syndrome, chromosome 9p deletion syndrome

Dermatomyositis ( 2 Files )

Disease name: Dermatomyositis

ICD 10: M33.90

Synonyms: Adult dermatomyositis, polymyositis, idiopathic inflammatory myopathy, juvenile dermatomyositis (onset < 18 yrs)
Distal arthrogryposis type 3

Distal arthrogryposis type 3 ( 1 Files )

Disease name: Distal arthrogryposis type 3

ICD 10: Q74.3

Synonyms: Gordon syndrome; distal arthrogryposis multiplex congenita type IIA; camptodactyly, cleft palate, and clubfoot
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
Ellis-van Creveld syndrome

Ellis-van Creveld syndrome ( 1 Files )

Disease name: Ellis van-Creveld syndrome (EVC)
ICD 10: Q77.6
Synonyms: Chondroectodermal dysplasia, Mesodermic dysplasia
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: -
Erdheim-Chester disease

Erdheim-Chester disease ( 1 Files )

Disease name: Erdheim-Chester disease

ICD 10: C96.1 (ICD-9-CM: 202.3)
Synonyms: ECD is also called lipoid granulomatosis; non-Langerhans cell histiocytosis; Erdheim-Chester syndrome; polyostotic sclerosing histiocytosis
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 ( 3 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
Freeman-Burian syndrome

Freeman-Burian syndrome ( 1 Files )

Disease name: Freeman-Burian syndrome

ICD 10: Q87.0

Synonyms: Freeman-Sheldon syndrome, Whistling face syndrome, distal arthrogryposis type 2A, craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, cranio-facio-corporal syndrome
Friedreich's Ataxia

Friedreich's Ataxia ( 1 Files )

Disease name: Friedreich’s Ataxia

ICD 10: G11.1

Synonyms: -

Fucosidosis ( 1 Files )

Disease name:  Fucosidosis (OMIM 230000)

ICD 10: E77.1

Synonyms: Alpha-L-Fucosidase Deficiency
Gaucher disease

Gaucher disease ( 1 Files )

Disease name: Gaucher disease
ICD 10: E75.2
Synonyms: sphingolipidosis (lysosomal storage disorder, deficiency of glucocerebrosidase)
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
Glutaric acidemia type 1

Glutaric acidemia type 1 ( 1 Files )

Disease name: Glutaric acidemia type 1

ICD 10: E72.3 - Disorders of lysine and hydroxylysine metabolism

Synonyms: Glutaric aciduria type 1
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
Haemophilia A

Haemophilia A ( 1 Files )

Disease name: Haemophilia A

ICD 10: D66

Synonyms: Classic haemophilia or Factor VIII deficiency
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
Huntington’s disease

Huntington’s disease ( 1 Files )

Disease name: Huntington’s disease

ICD 10: G10
Synonyms: Huntington’s chorea
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
Hypoplastic left heart syndrome

Hypoplastic left heart syndrome ( 1 Files )

Disease name: Hypoplastic left heart syndrome

ICD 10: Q23.4

Synonyms: HLHS
Immune thrombocytopenia

Immune thrombocytopenia ( 1 Files )

Disease name: Immune thrombocytopenia (ITP)

ICD 10: D69.3

Synonyms: Immune thrombocytopenic purpura, idiopathic thrombocytopenic purpura
Inclusion body myositis

Inclusion body myositis ( 1 Files )

Disease name: Inclusion body myositis
ICD 10: M60.8
Synonyms: Sporadic inclusion body myositis
Joubert syndrome

Joubert syndrome ( 2 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
Kartagener syndrome

Kartagener syndrome ( 2 Files )

Disease name: Kartagener syndrome
ICD 10: Q89.3
Synonyms: sinusitis-bronchiectasis-situs inversus (triad) syndrome
Kasabach-Merritt syndrome

Kasabach-Merritt syndrome ( 1 Files )

Disease name: Kasabach-Merritt syndrome

ICD 10: D75.8

Synonyms: haemangioma-thrombopenia syndrome, Kaposiform haemangioendothelioma
Kearns Sayre syndrome

Kearns Sayre syndrome ( 1 Files )

Disease name: Kearns Sayre syndrome
ICD 10: H49.8
Synonyms: chronic progressive external ophthalmoplegia and myopathy, chronic
progressive external ophthalmoplegia with ragged red fibers, CPEO with myopathy, CPEOwith ragged red fibers, KSSS (Kearns Sayre Shy syndrome), mitochondrial cytopathy,occulocraniosomatic syndrome (absolute),ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy, ophthalmoplegia plus syndrome
Kikuchi-Fujimoto disease

Kikuchi-Fujimoto disease ( 1 Files )

Disease name: Kikuchi-Fujimoto disease

ICD 10: I88.1 Lymphadenitis cervical, non specified site, chronic or subacute

Synonyms: Histiocytic necrotizing lymphadenitis, Kikuchi disease, Kikuchi-Fujimoto
disease, Kikuchi lymphadenitis, lymphadenopathy, KFD
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
Klippel-Trénaunay syndrome

Klippel-Trénaunay syndrome ( 1 Files )

Disease name: Klippel-Trénaunay syndrome
ICD 10: Q 87.2
Synonyms: Angio osteohypertrophy, naevus vasculosus osteohypertrophicus, capillary venous lymphatic malformation (CLVM)
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)
Larsen syndrome

Larsen syndrome ( 1 Files )

Disease name: Larsen syndrome
ICD 10: OMIM 150250
Synonyms: -
Lennox-Gastaut syndrome

Lennox-Gastaut syndrome ( 1 Files )

Disease name: Lennox-Gastaut syndrome

ICD 10: G40.4

Synonyms: not reported
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 ( 1 Files )

Disease name: Limb-girdle muscular dystrophy

ICD 10: G71.0

Synonyms: -
Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy ( 2 Files )

Disease name: Limb-girdle muscular dystrophy

ICD 10: G71.0

Synonyms: -
Lowe syndrome

Lowe syndrome ( 1 Files )

Disease name: Lowe syndrome
ICD 10: E72.03
Synonyms: OCRL, oculo-cerebro-renal syndrome, oculo-cerebro-renal syndrome of Lowe, Lowe-Terrey-MacLachan syndrome
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
McArdle disease

McArdle disease ( 1 Files )

Disease name: McArdle Disease
ICD 10: ICD 10 E74.04
Synonyms: Glycogen storage disease type 5, GSD type 5, GSDV, Glycogenosis type V, Myophosphorylase deficiency, McArdle Disease, Muscle Glycogen Phosphorylase Deficiency
McCune-Albright syndrome

McCune-Albright syndrome ( 1 Files )

Disease name: McCune-Albright syndrome
ICD 10: Q78.1
Synonyms: Polyostotic fibrous dysplasia, MAS, Albright syndrome, osteitis fibrosa
disseminata, PFD, precocious puberty with polyostotic fibrosis and abnormal pigmentation, POFD
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
Methylmalonic acidemia

Methylmalonic acidemia ( 1 Files )

Disease name: Methylmalonic acidemia

ICD 10: E71.1

Synonyms: Methylmalonic aciduria, MMA, isolated methylmalonic acidemia
Miller-Dieker syndrome

Miller-Dieker syndrome ( 1 Files )

Disease name: Miller-Dieker syndrome
ICD 10: Q93.88
Synonyms: 17p13.3 deletion syndrome
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 ( 2 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
Niemann-Pick Type C

Niemann-Pick Type C ( 1 Files )

Disease name: Niemann-Pick type C
ICD 10: E75.242
Synonyms: Juvenile Niemann-Pick disease
Noonan syndrome

Noonan syndrome ( 2 Files )

Disease name: Noonan syndrome

ICD 10: Q87.1

Synonyms: -
Opitz G/BBB syndrome

Opitz G/BBB syndrome ( 1 Files )

Disease name: Opitz G/BBB syndrome

ICD 10: Q87.8

Synonyms: Hypertelorism-hypospadias syndrome, hypospadias-dysphagia syndrome, OpitzBBB/G syndrome, Opitz BBBG syndrome, Opitz-Frias syndrome, Opitz G syndrome, Opitz syndrome, hypertelorism with esophageal abnormalities and hypospadias
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
Pallister-Hall Syndrome

Pallister-Hall Syndrome ( 1 Files )

Disease name:          Pallister-Hall Syndrome

ICD 10:                       D33.0

Synonyms:                Hypothalamic hamartoblastoma syndrome

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
Paraganglioma & Pheochromocytoma

Paraganglioma & Pheochromocytoma ( 1 Files )

Disease name: Paraganglioma & Pheochromocytoma
ICD 10: D35.00 benign phaeochromocytoma; C74.1 malignant phaeochromocytoma;
D44.7 paraganglioma
Synonyms: Chromaffinoma, Chromaffin paraganglioma, Chromaffin tumor, intra-medullary paraganglioma, Chromaffin cell tumor
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)
Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome ( 1 Files )

Disease name:  Rubinstein-Taybi syndrome

ICD 10:  Q87.2

Synonyms:  Michail-Matsoukas-Theodorou-Rubinstein-Taybi syndrome, Broad thumb-hallux syndrome, Rubinstein syndrome
Russel-Silver syndrome

Russel-Silver syndrome ( 1 Files )

Disease name: Russel-Silver syndrome

ICD 10: Q87.1

Synonyms: Silver-Russell-Syndrome

Russell-Silver dwarfism

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome ( 1 Files )

Disease name: Saethre-Chotzen syndrome
ICD 10: Q87.0
Synonyms: Acro-cephalo-syndactyly (ACS) syndrome, ACS III
Sanfilippo disease

Sanfilippo disease ( 2 Files )

Disease name: Sanfilippo disease

ICD 10: E76.2

Synonyms: MPS III, Sanfilippo syndrome, Mucopolisaccaridosi type III
Scimitar syndrome

Scimitar syndrome ( 1 Files )

Disease name:   Scimitar syndrome

ICD 10: Q26.8

Synonyms: Congenital Pulmonary Venolobar Syndrome, Pulmonary Venous Return Anomaly, Partial/Total Anomalous Pulmonary Venous Return (P/TAPVR)
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
Sheldon-Hall syndrome

Sheldon-Hall syndrome ( 1 Files )

Disease name:   Sheldon-Hall syndrome

ICD 10: Q74.3

Synonyms:  Freeman-Sheldon variant, distal arthrogryposis multiplex congenita, distal arthrogryposis type 2B, distal arthrogryposis multiplex congenita type II with craniofacial abnormalities
Shwachman-Diamond syndrome

Shwachman-Diamond syndrome ( 1 Files )

Disease name:  Shwachman–Diamond syndrome
ICD 10:  Q45.3
Synonyms:  Shwachman Syndrome, Shwachman-Bodian-Diamond Syndrome, Shwachman-Diamond-Oski syndrome, Shwachman-Bodian syndrome, Pancreatic Insufficiency and congenital lipomatosis of pancreas,Metaphyseal chondrodysplasia (Shwachman-Diamondtype), SDS
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)

Stickler syndrome

Stickler syndrome ( 1 Files )

Disease name: Stickler syndrome
ICD 10: Q87.5
Synonyms: Marshall-Stickler, Wagner-Stickler hereditary arthro-ophthalmopathy
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)

Stress cardiomyopathy

Stress cardiomyopathy ( 1 Files )

Disease name: Stress cardiomyopathy
ICD 10: I42
Synonyms: Ballooning cardiomyopathy, broken heart syndrome
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 onset juvenile idiopathic arthritis

Systemic onset juvenile idiopathic arthritis ( 1 Files )

Disease name: Systemic onset juvenile idiopathic arthritis
ICD 10: M08.2
Synonyms: SoJiA, systemic juvenile idiopathic arthritis, adolescent Still`s disease
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
Trisomy 18 syndrome

Trisomy 18 syndrome ( 1 Files )

Disease name: Trisomy 18

ICD 10: Q91.1
Synonyms: Edwards syndrome; trisomy E syndrome; chromosome 18, trisomy 18 complete; complete trisomy 18 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 ( 2 Files )

Disease name: Von Willebrand disease

ICD 10: D68.0

Synonyms: Inherited bleeding disorder
Waardenburg syndromes

Waardenburg syndromes ( 2 Files )

Disease name: Waardenburg syndromes

ICD 10: Q87.8

Synonyms: Waardenburg syndrome type I, type II, type III and type IV
Walker-Warburg syndrome

Walker-Warburg syndrome ( 2 Files )

Disease name: Walker-Warburg syndrome

ICD 10: Q04.3

Synonyms: Warburg syndrome, HARD (hydrocephalus, agyria, retinal dysplasia) or HARDE (E for encephalocele) syndrome, Chemke syndrome, Cerebro-ocular dysplasia-muscular dystrophy syndrome, cerebro-ocular dysgenesis, Pagon syndrome.
Muscle Eye Brain disease shares many characteristics with Walker-Warburg syndrome and has sometimes been used as synonym. However, most authors consider the two entities as different syndromes. Lissencephaly type II is also sometimes used as synonym, but is actually a broader term applying also to other similar syndromes with cobblestone lissencephaly.
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

de Barsy syndrome

de Barsy syndrome ( 2 Files )

Disease name: De Barsy syndrome
ICD 10: Q87.7; OMIM 614438
Synonyms: DBS, De Barsy-Moens-Dierckx syndrome, Progeroid syndrome of De Barsy,Autosomal recessive cutis laxa Type 3
*With 2 gene subdivisions:
ARCL3A: caused by a ALDH18A1 mutation
ARCL3B: caused by a PYCR1 mutation

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