List of syndromes
This is an alphabetically sorted list of medical syndromes.
starting with numbers.
- 13q deletion syndrome
- 17q21.31 microdeletion syndrome
- 1p36 deletion syndrome
- 1q21.1 deletion syndrome
- 1q21.1 duplication syndrome
- 22q11.2 distal deletion syndrome
- 22q11.2 duplication syndrome
- 22q13 deletion syndrome
- 2p15-16.1 microdeletion syndrome
- 2q37 deletion syndrome
- 3-M syndrome
- 3C syndrome
- 3q29 microdeletion syndrome
- 49,XXXXY
- 4D syndrome
- 8p23.1 duplication syndrome
- 9q34 deletion syndrome
A
- Aagenaes syndrome
- Aarskog–Scott syndrome
- Aase syndrome
- Abandoned child syndrome
- ABCD syndrome
- Abdallat–Davis–Farrage syndrome
- Abderhalden–Kaufmann–Lignac syndrome
- Abdominal compartment syndrome
- abdominal wall pain syndrome
- Ablepharon macrostomia syndrome
- Abruzzo–Erickson syndrome
- Achard syndrome
- Achard–Thiers syndrome
- Ackerman syndrome
- Acorea, microphthalmia and cataract syndrome
- Acrocallosal syndrome
- Acropectoral syndrome
- Acro–dermato–ungual–lacrimal–tooth syndrome
- Activation syndrome
- Acute aortic syndrome
- Acute brain syndrome
- Acute chest syndrome
- Acute coronary syndrome
- Acute HME syndrome
- Acute interstitial pneumonitis
- Acute motor axonal neuropathy
- acute platelete activation syndrome
- Acute radiation syndrome
- Acute respiratory distress syndrome
- Acute retroviral syndrome
- Adams–Nance syndrome
- Adams–Oliver syndrome
- Adams–Stokes syndrome
- Adducted thumb syndrome
- Adie syndrome
- Adiposogenital dystrophy
- Adult-onset immunodeficiency syndrome
- Advanced sleep phase disorder
- Aerotoxic syndrome
- Afferent loop syndrome
- Aicardi syndrome
- Aicardi–Goutières syndrome
- AIDS dysmorphic syndrome
- Al-Raqad syndrome
- Alagille syndrome
- Albinism–deafness syndrome
- Alcohol withdrawal syndrome
- Alezzandrini syndrome
- Alice in Wonderland syndrome
- Alien hand syndrome
- Allan–Herndon–Dudley syndrome
- Allopurinol hypersensitivity syndrome
- Alopecia contractures dwarfism mental retardation syndrome
- Alpha-thalassemia mental retardation syndrome
- Alport syndrome
- Alström syndrome
- Alvarez' syndrome
- Amennorrhea-galactorrhea syndrome
- Amniotic band constriction
- Amotivational syndrome
- Amplified musculoskeletal pain syndromes
- Andermann syndrome
- Andersen–Tawil syndrome
- Androgen insensitivity syndrome
- Angelman syndrome
- ANOTHER syndrome
- Anterior cerebral artery syndrome
- Anterior compartment syndrome
- Anterior cutaneous nerve entrapment syndrome
- Anterior interosseous syndrome
- Anterior spinal artery syndrome
- Anticonvulsant hypersensitivity syndrome
- Antidepressant discontinuation syndrome
- Antiphospholipid syndrome
- Antisynthetase syndrome
- Antley–Bixler syndrome
- Anton–Babinski syndrome
- Aortic arch syndrome
- Aortocaval compression syndrome
- Apert syndrome
- Apparent mineralocorticoid excess syndrome
- Arakawa's syndrome II
- Ardalan–Shoja–Kiuru syndrome
- AREDYLD syndrome
- Aromatase excess syndrome
- Arterial tortuosity syndrome
- Arthrogryposis–renal dysfunction–cholestasis syndrome
- Arts syndrome
- Ascher's syndrome
- Asherman's syndrome
- Asperger syndrome
- Asymmetric crying facies
- Ataxia-pancytopenia syndrome
- Ataxia-telangiectasia
- Athletic heart syndrome
- Athymhormic syndrome
- ATR-16 syndrome
- Atrophodermia vermiculata
- Atypical hemolytic uremic syndrome
- Austrian syndrome
- Autoimmune disease
- Autoimmune lymphoproliferative syndrome
- Autoimmune polyendocrine syndrome type 1
- Autoimmune polyendocrine syndrome type 2
- Autoimmune polyendocrine syndrome type 3
- Autoimmune polyendocrine syndrome
- Autoinflammatory syndromes
- Avellis syndrome
- Axenfeld syndrome
- Axial spondyloarthritis
- Ayazi syndrome
B
- Babinski–Nageotte syndrome
- Baboon syndrome
- Baggio–Yoshinari syndrome
- Baller–Gerold syndrome
- Bamforth–Lazarus syndrome
- Bangstad syndrome
- Bannayan–Riley–Ruvalcaba syndrome
- Banti's syndrome
- Barakat syndrome
- Barakat-Perenthaler syndrome
- Bardet–Biedl syndrome
- Bare lymphocyte syndrome type II
- Bare lymphocyte syndrome
- Barlow's syndrome
- Barraquer–Simons syndrome
- Bart syndrome
- Barth Syndrome
- Bartter syndrome
- Bart–Pumphrey syndrome
- Bassen-Kornzweig syndrome
- Battered person syndrome
- Bazex–Dupré–Christol syndrome
- Beare–Stevenson cutis gyrata syndrome
- Beckwith–Wiedemann syndrome
- Behcet's syndrome
- Behr syndrome
- Benedikt syndrome
- Benign fasciculation syndrome
- Benjamin syndrome
- Benzodiazepine withdrawal syndrome
- Berdon syndrome
- Berk–Tabatznik syndrome
- Bernard–Soulier syndrome
- Berserk llama syndrome
- Bhaskar–Jagannathan syndrome
- Biemond syndrome
- Bilious vomiting syndrome
- Binder's syndrome
- Bing–Neel syndrome
- Birt–Hogg–Dubé syndrome
- Björnstad syndrome
- Bland-White-Garland syndrome
- Blau syndrome
- Blepharophimosis, ptosis, epicanthus inversus syndrome
- Blind loop syndrome
- Bloom syndrome
- Blount's disease
- Blue baby syndrome
- Blue diaper syndrome
- Blue rubber bleb nevus syndrome
- Blue toe syndrome
- Bobble-head doll syndrome
- Body fat redistribution syndrome
- Boehm syndrome
- Boerhaave syndrome
- Bogart–Bacall syndrome
- Bohring–Opitz syndrome
- Bonnet–Dechaume–Blanc syndrome
- Bowen–Conradi syndrome
- Brachycephalic airway obstructive syndrome
- Brainstem stroke syndrome
- Branchio-oculo-facial syndrome
- Branchio-oto-renal syndrome
- Bromism
- Brown's syndrome
- Brown-Séquard syndrome
- Brown–Vialetto–Van Laere syndrome
- Bruck syndrome
- Brugada syndrome
- Brunner syndrome
- Budd–Chiari syndrome
- Burning feet syndrome
- Burning mouth syndrome
- Burnside–Butler syndrome
- Buschke–Ollendorff syndrome
- Bálint's syndrome
- Börjeson-Forssman-Lehmann syndrome
C
- CADASIL
- Camera-Marugo-Cohen syndrome
- CAMFAK syndrome
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
- Cancer syndrome
- Cancer-related fatigue
- CANDLE syndrome
- Canine epileptoid cramping syndrome
- Cannabinoid hyperemesis syndrome (CHS)
- Cantú syndrome
- Capgras delusion
- Capgras syndrome
- Capillary leak syndrome
- Caplan's syndrome
- Carcinoid syndrome
- Cardiac syndrome X
- Cardiofaciocutaneous syndrome
- Cardiorenal syndrome
- Cardiovascular syndrome
- Carney complex
- Caroli disease
- Carpal tunnel syndrome
- Carpenter syndrome
- Cat eye syndrome
- Cataract-microcornea syndrome
- Catastrophic antiphospholipid syndrome
- Catel–Manzke syndrome
- Cauda equina syndrome
- Caudal regression syndrome
- CDK13-related disorder
- Celebrity worship syndrome
- Central centrifugal cicatricial alopecia
- Central cord syndrome
- Central nervous system syndrome
- Central pain syndrome
- Cerebellar cognitive affective syndrome
- Cerebellar stroke syndrome
- Cerebellopontine angle syndrome
- Cerebral salt-wasting syndrome
- cervical disc syndrome
- Cervical syndrome
- Cervicocranial syndrome
- Charcot–Marie–Tooth disease
- CHARGE syndrome
- Charles Bonnet syndrome
- Chiari–Frommel syndrome
- Chiasmal syndrome
- Chilaiditi syndrome
- Child sexual abuse accommodation syndrome
- CHILD syndrome
- childhood myelodysplastic syndrome
- Childhood tumor syndrome
- Chinese Restaurant Syndrome
- Chromosomal deletion syndrome
- Chromosome 5q deletion syndrome
- Chronic fatigue syndrome
- Chronic functional abdominal pain
- Chronic infantile neurologic cutaneous and articular syndrome
- Chronic Lyme disease
- Chronic prostatitis/chronic pelvic pain syndrome
- Churg–Strauss syndrome
- Chédiak–Higashi syndrome
- Claude's syndrome
- Clinically isolated syndrome
- CLOVES syndrome
- COACH syndrome
- Cobb syndrome
- Cockayne syndrome
- Coffin–Lowry syndrome
- Coffin–Siris syndrome
- Cogan syndrome
- Cohen syndrome
- Compartment syndrome
- Complement deficiency
- Complete androgen insensitivity syndrome
- Complex regional pain syndrome
- Computer vision syndrome
- Congenital bilateral perisylvian syndrome
- Congenital generalized lipodystrophy
- Congenital insensitivity to pain
- Congenital myasthenic syndrome
- Congenital nephrotic syndrome
- Congenital rubella syndrome
- Conn's syndrome
- Conorenal syndrome
- Conradi–Hünermann syndrome
- Constriction ring syndrome
- Contiguous gene syndrome
- Conus medullaris syndrome
- Cooks syndrome
- Cord colitis syndrome
- Corneal-cerebellar syndrome
- Corneal dystrophy-perceptive deafness syndrome
- Cornelia de Lange Syndrome
- Corneodermatoosseous syndrome
- Coronary steal
- Costeff syndrome
- Costello syndrome
- Cotard delusion
- Cotard's Syndrome
- Cotton fever
- Cowden syndrome
- Cracked tooth syndrome
- Cramp fasciculation syndrome
- Crandall syndrome
- Craniosynostosis–anal anomalies–porokeratosis syndrome
- Cranio-lenticulo-sutural dysplasia
- CREST syndrome
- Cri du chat
- Crigler–Najjar syndrome
- Crome syndrome
- Cronkhite–Canada syndrome
- Cross syndrome
- Crouzon syndrome
- Crouzonodermoskeletal syndrome
- Crush syndrome
- Cruveilhier-Baumgarten syndrome
- Cryopyrin-associated periodic syndrome
- Cuboid syndrome
- Currarino syndrome
- CuRRL syndrome
- Cushing's syndrome
- Cyclic vomiting syndrome
- Cytokine release syndrome
D
- Da Costa's syndrome
- Daentl Townsend Siegel syndrome
- Dahlberg Borer Newcomer syndrome
- Dandy–Walker syndrome
- De Barsy syndrome
- de Clérambault's syndrome
- De Quervain syndrome
- Dead arm syndrome
- Deficiency of the interleukin-1–receptor antagonist
- Degenerative disc disease
- Dejerine–Roussy syndrome
- Delayed sleep phase disorder
- Delusional misidentification syndrome
- Delusional parasitosis
- Dennie–Marfan syndrome
- Dentomandibular sensorimotor dysfunction
- Denys–Drash syndrome
- DeSanctis–Cacchione syndrome
- Descending perineum syndrome
- Diabetic stiff hand syndrome
- Dialysis disequilibrium syndrome
- Diencephalic syndrome
- Diffuse infiltrative lymphocytosis syndrome
- DiGeorge syndrome
- Diogenes syndrome
- Diploid triploid mosaic
- Disconnection syndrome
- Distal 18q-
- Distal intestinal obstruction syndrome
- Distal trisomy 10q
- Doege–Potter syndrome
- Donnai–Barrow syndrome
- Donohue syndrome
- DOOR syndrome
- Dopamine dysregulation syndrome
- Down syndrome
- Dravet syndrome
- Dressler syndrome
- Drug reaction with eosinophilia and systemic symptoms
- Dry eye syndrome
- Duane syndrome
- Duane-radial ray syndrome
- Dubin–Johnson syndrome
- Dubowitz syndrome
- Dumping syndrome
- dysarthria-clumsy hand syndrome
- Dysexecutive syndrome
- Dyskeratosis congenita
- Dysplastic nevus syndrome
E
- Eagle syndrome
- EAST syndrome
- Ectrodactyly–ectodermal dysplasia–cleft syndrome
- Edwards syndrome
- EEM syndrome
- Egg drop syndrome
- Ehlers–Danlos syndrome
- Eiken syndrome
- Einstein syndrome
- Eisenmenger's syndrome
- Eldomery-Sutton syndrome
- Elejalde syndrome
- Ellis–van Creveld syndrome
- Emanuel syndrome
- Empty nest syndrome
- Empty nose syndrome
- Empty sella syndrome
- Enlarged vestibular aqueduct syndrome
- Environmental dependency syndrome
- Eosinophilia–myalgia syndrome
- Eosinophilic cellulitis
- Epidermal nevus syndrome
- Epilepsy syndromes
- Episodic dyscontrol syndrome
- Epizootic ulcerative syndrome
- Erdheim–Chester disease
- Erondu–Cymet syndrome
- Estrogen insensitivity syndrome
- Euthyroid sick syndrome
- Evans syndrome
- Excess ovarian androgen release syndrome
- Exploding head syndrome
- Extrapyramidal symptoms
F
- FACES syndrome
- Facet syndrome
- Facial Onset Sensory Motor Neuropathy syndrome
- Fahr's syndrome
- Failed back syndrome
- familial cholestasis syndrome
- Familial cold autoinflammatory syndrome
- Familial Mediterranean fever
- Familial partial lipodystrophy
- Fanconi syndrome
- Favre–Racouchot syndrome
- Febrile infection-related epilepsy syndrome
- Febrile neutrophilic dermatosis
- Fechtner syndrome
- Feingold syndrome
- Feline hyperesthesia syndrome
- Felty's syndrome
- Femur fibula ulna syndrome
- Fetal alcohol syndrome
- Fetal hydantoin syndrome
- Fetal trimethadione syndrome
- Fetal warfarin syndrome
- FG syndrome
- Fibrinolysis syndrome
- Fibromyalgia syndrome
- Fibromyalgia
- First arch syndrome
- Fish acute toxicity syndrome
- Fitz-Hugh–Curtis syndrome
- Fitzsimmons–Guilbert syndrome
- Flammer syndrome
- Fleischer's syndrome
- Floating–Harbor syndrome
- Floppy eyelid syndrome
- Floppy trunk syndrome
- Florid cutaneous papillomatosis
- Flynn–Aird syndrome
- Foal immunodeficiency syndrome
- Foerster's syndrome
- Foix–Alajouanine syndrome
- Foix–Chavany–Marie syndrome
- Folie à deux
- Follicle-stimulating hormone insensitivity
- foramen magnum compression syndrome
- Forbes-Albright syndrome
- Foreign accent syndrome
- Foster–Kennedy syndrome
- Fountain syndrome
- Foville's syndrome
- Fragile X syndrome
- Fragile X-associated tremor/ataxia syndrome
- Franceschetti–Klein syndrome
- Frank–ter Haar syndrome
- Fraser syndrome
- Frasier syndrome
- Freeman–Sheldon syndrome
- Frey's syndrome
- Froin's syndrome
- Fryns syndrome
- Functional somatic syndrome
G
- Gaisböck syndrome
- Galloway Mowat syndrome
- GAPO syndrome
- Gardner's syndrome
- Gastric outlet obstruction
- Gastrocutaneous syndrome
- Gastrointestinal syndrome
- Genitopatellar syndrome
- Gerstmann syndrome
- Gerstmann–Sträussler–Scheinker syndrome
- Geschwind syndrome
- Gianotti–Crosti syndrome
- Giant platelet disorder
- Guillain-Barre syndrome
- Gillespie syndrome
- Gitelman syndrome
- Gleich's syndrome
- GMS syndrome
- Goldberg–Shprintzen syndrome
- Goldenhar syndrome
- Gomez and López-Hernández syndrome
- Gonadotropin insensitivity
- Gonadotropin-releasing hormone insensitivity
- Goodpasture syndrome
- Gordon syndrome
- Gougerot–Blum syndrome
- Gourmand syndrome
- Gouverneurs syndrome
- GRACILE syndrome
- Graham-Little syndrome
- Gray baby syndrome
- Gray platelet syndrome
- Grayson-Wilbrandt corneal dystrophy
- Greater trochanteric pain syndrome
- Green nail syndrome
- Greig cephalopolysyndactyly syndrome
- Grinspan's syndrome
- Griscelli syndrome type 2
- Griscelli syndrome type 3
- Griscelli syndrome
- Grisel's syndrome
- Growing teratoma syndrome
- Grunya's Syndrome
- Gilbert's syndrome
- Gulf War syndrome
- Gullo syndrome
H
- Haber syndrome
- Hagemoser–Weinstein–Bresnick syndrome
- Haglund's syndrome
- Haim–Munk syndrome
- Hajdu–Cheney syndrome
- Halal syndrome
- Hallermann–Streiff syndrome
- Hamman's syndrome
- Hamman-Rich syndrome
- Hand-foot-genital syndrome
- Handigodu syndrome
- Hanhart syndrome
- Hantavirus pulmonary syndrome
- Hapnes Boman Skeie syndrome
- Harlequin syndrome
- Harris platelet syndrome
- Harrison syndrome
- Havana syndrome
- Hay–Wells syndrome
- Hearing loss with craniofacial syndromes
- HEC syndrome
- Heel pad syndrome
- Heel spur syndrome
- Heerfordt syndrome
- HELLP syndrome
- Hemihyperplasia–multiple lipomatosis syndrome
- Hemimegalencephaly
- Hemispatial neglect
- Hemoglobin Lepore syndrome
- Hemolytic-uremic syndrome
- Hennekam syndrome
- Hepatopulmonary syndrome
- Hepatorenal syndrome
- Hereditary breast–ovarian cancer syndrome
- Hereditary hyperbilirubinemia
- Hereditary leiomyomatosis and renal cell cancer syndrome
- Hereditary neuralgic amyotrophy
- Hereditary nonpolyposis colorectal cancer
- Hermansky–Pudlak syndrome
- Hero syndrome
- Heyde's syndrome
- High-rise syndrome
- Hinman syndrome (Lazy bladder syndrome)
- HIV/AIDS
- Holiday heart syndrome
- Holt–Oram syndrome
- Hopkins syndrome
- Horn-Kolb syndrome
- Horner's syndrome
- Howel–Evans syndrome
- Hoyeraal-Hreidarsson syndrome
- Ho–Kaufman–Mcalister syndrome
- Hughes–Stovin syndrome
- Hunan hand syndrome
- Hunter syndrome
- Huntington's disease-like syndrome
- HUPRA syndrome
- Hurler syndrome
- Hurler–Scheie syndrome
- Hutchinson–Gilford progeria syndrome
- Hydrolethalus syndrome
- Hyper IgM syndrome
- Hyper-IgD syndrome
- Hyper-IgM syndrome type 1
- Hyper-IgM syndrome type 2
- Hyper-IgM syndrome type 3
- Hyper-IgM syndrome type 4
- Hyper-IgM syndrome type 5
- Hyperimmunoglobulin D syndrome
- Hyperimmunoglobulin E syndrome
- Hyperleukocytosis syndrome
- Hypermobility syndrome
- Hyperosmolar syndrome
- Hyperprolactinaemia
- Hyperprolactinemic SAHA syndrome
- Hypertension and brachydactyly syndrome
- Hypertrichosis cubiti
- Hyperventilation syndrome
- Hyperviscosity syndrome
- Hypohidrotic ectodermal dysplasia
- Hypoplastic left heart syndrome
- Hypoplastic right heart syndrome
- Hypotonia
- Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome
- Hypotrichosis–lymphedema–telangiectasia syndrome
- Hystrix-like ichthyosis–deafness syndrome
I
- Ichthyosis follicularis with alopecia and photophobia syndrome
- Ichthyosis prematurity syndrome
- Idiopathic pneumonia syndrome
- Idiopathic postprandial syndrome
- Idiopathic pure sudomotor failure
- Iliotibial band syndrome
- Imerslund–Gräsbeck syndrome
- Immersion foot syndromes
- Immune reconstitution inflammatory syndrome
- Immunodeficiency–centromeric instability–facial anomalies syndrome
- Impingement syndrome
- Imposter syndrome
- Incontinentia pigmenti
- Infant respiratory distress syndrome
- Inferior vena cava syndrome
- Infertility in polycystic ovary syndrome
- Influenza-like illness
- Institutional syndrome
- Intersection syndrome
- Interstitial cystitis
- Intracranial hypertension syndrome
- Intraoperative floppy iris syndrome
- Intravenous marijuana syndrome
- IPEX syndrome
- Iridocorneal endothelial syndrome
- Irlen syndrome
- Irregular sleep–wake rhythm
- irritable bladder syndrome
- Irritable bowel syndrome
- Irritable male syndrome
- Irukandji syndrome
- Irvine–Gass syndrome
- Isolated brainstem syndrome
J
- Jackson–Weiss syndrome
- Jacobsen syndrome
- Jaffe–Campanacci syndrome
- Jalili syndrome
- Jansen's metaphyseal chondrodysplasia
- Janz syndrome
- Jeavons syndrome
- Jervell and Lange-Nielsen syndrome
- Johanson–Blizzard syndrome
- Johnson–McMillin syndrome
- Johnson–Munson syndrome
- Joubert syndrome
- Juberg-Hellman syndrome
- Jugular foramen syndrome
- Juvenile polyposis syndrome
- Jerusalem syndrome
K
- Kabuki syndrome
- Kallmann syndrome
- Kapur–Toriello syndrome
- Karak syndrome
- Karsch-Neugebauer syndrome
- Kartagener's syndrome
- Kasabach–Merritt syndrome
- Katz syndrome
- Kaufman oculocerebrofacial syndrome
- Kearns–Sayre syndrome
- Keppen–Lubinsky syndrome
- Keratitis–ichthyosis–deafness syndrome
- Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
- Keutel syndrome
- Kimmelstiel-Wilson syndrome
- Kindler syndrome
- King–Kopetzky syndrome
- Kleine–Levin syndrome
- Klinefelter syndrome
- Klippel–Feil syndrome
- Klippel–Trénaunay syndrome
- Klüver–Bucy syndrome
- Knobloch syndrome
- Kocher–Debre–Semelaigne syndrome
- Kohlschütter-Tönz syndrome
- Korsakoff's syndrome
- Kostmann syndrome
- Kounis syndrome
- Kowarski syndrome
- Kufor–Rakeb syndrome
- König's syndrome
L
- Lachiewicz–Sibley syndrome
- Lacunar Stroke Syndrome
- Lambert–Eaton myasthenic syndrome
- Landau–Kleffner syndrome
- Langer–Giedion syndrome
- Laron syndrome
- Larsen syndrome
- Laryngoonychocutaneous syndrome
- Lateral medullary syndrome
- Lateral meningocele syndrome
- Lateral pontine syndrome
- Laugier–Hunziker syndrome
- Laurence–Moon syndrome
- Lavender foal syndrome
- Lavender Town
- Lawrence–Seip syndrome
- Lazarus syndrome
- Leaky gut syndrome
- Legg–Calvé–Perthes disease
- Legius syndrome
- Leiner's disease
- Lelis syndrome
- Lemierre's syndrome
- Lennox–Gastaut syndrome
- Lenz microphthalmia syndrome
- Lenz–Majewski syndrome
- Leriche's syndrome
- Leschke syndrome
- Lesch–Nyhan syndrome
- Lethal congenital contracture syndrome
- Lethal white syndrome
- Leukotriene receptor antagonist-associated Churg–Strauss syndrome
- Levator ani syndrome
- Leydig cell hypoplasia
- Liddle's syndrome
- Liebenberg syndrome
- LIG4 syndrome
- Lima syndrome
- Limb girdle syndrome
- Limber tail syndrome
- Limb–mammary syndrome
- Linburg–Comstock syndrome
- Li–Fraumeni syndrome
- Locked-in syndrome
- Locomotive syndrome
- Loeys–Dietz syndrome
- Loin pain hematuria syndrome
- Long face syndrome
- Long QT syndrome
- Loose anagen syndrome
- Lown–Ganong–Levine syndrome
- Lowry–MacLean syndrome
- Lucey–Driscoll syndrome
- Lujan–Fryns syndrome
- lumbar disc syndrome
- Lupus-like syndrome
- Lutembacher's syndrome
- Lymphangitis carcinomatosa
- Lymphedema–distichiasis syndrome
- Lynch syndrome
- Lyngstadaas syndrome
- Löffler's syndrome
- Löfgren syndrome
M
- M74 syndrome
- Macrocephaly-capillary malformation
- Macrophage activation syndrome
- Maffucci syndrome
- Majeed syndrome
- Majewski's polydactyly syndrome
- Mal de debarquement
- Malformative syndrome
- Mallory–Weiss syndrome
- Malnutrition–inflammation complex
- Malouf syndrome
- Malpuech facial clefting syndrome
- Management of chronic headaches
- Manning criteria
- Marchiafava–Bignami disease
- Marden–Walker syndrome
- Mare reproductive loss syndrome
- Marfan syndrome
- Marfanoid–progeroid–lipodystrophy syndrome
- Marie Antoinette syndrome
- Marinesco–Sjögren syndrome
- Maroteaux–Lamy syndrome
- Marshall syndrome
- Marshall–Smith syndrome
- Marshall–White syndrome
- MASA syndrome
- Mast cell activation syndrome
- Mauriac syndrome
- Mayer–Rokitansky–Küster–Hauser syndrome
- May–Thurner syndrome
- May–White syndrome
- McArdle syndrome
- McCune–Albright syndrome
- McCusick syndrome
- McGillivray syndrome
- McKittrick–Wheelock syndrome
- McKusick–Kaufman syndrome
- McLeod syndrome
- MDP syndrome
- Mean world syndrome
- Meckel syndrome
- Meconium aspiration syndrome
- Medial medullary syndrome
- Medial pontine syndrome
- Median arcuate ligament syndrome
- Medical students' disease
- MEDNIK syndrome
- Megavitamin-B6 syndrome
- Meige's syndrome
- Meigs' syndrome
- MELAS syndrome
- Melkersson–Rosenthal syndrome
- Melnick–Needles syndrome
- Memory distrust syndrome
- Mendelson's syndrome
- Menkes disease
- MERRF syndrome
- Metabolic syndrome
- Michelin tire baby syndrome
- Michels Caskey syndrome
- Michels syndrome
- Mickleson syndrome
- Micro syndrome
- Microdeletion syndrome
- Microphthalmia–dermal aplasia–sclerocornea syndrome
- Middle cerebral artery syndrome
- Middle child syndrome
- Middle East respiratory syndrome
- Mikulicz syndrome
- Mild androgen insensitivity syndrome
- Milk-alkali syndrome
- Millard–Gubler syndrome
- Miller Fisher syndrome
- Miller syndrome
- Miller–Dieker syndrome
- Milroy's disease
- Milwaukee shoulder syndrome
- Mirhosseini–Holmes–Walton syndrome
- Mirizzi's syndrome
- Mirror syndrome
- Mismatch repair cancer syndrome
- Mitochondrial DNA depletion syndrome
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitral valve prolapse
- Mittelschmerz
- Mohr–Tranebjærg syndrome
- MOMO syndrome
- Monofixation syndrome
- MonoMAC
- mononucleosis like syndrome
- Morgagni Stewart Morel syndrome
- MORM syndrome
- Morquio syndrome
- Morvan's syndrome
- Mouth and genital ulcers with inflamed cartilage syndrome
- Mowat–Wilson syndrome
- Moyamoya disease
- Moynahan syndrome
- Muckle–Wells syndrome
- Muenke syndrome
- Muir–Torre syndrome
- Mukamel syndrome
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2
- Multiple evanescent white dot syndrome
- Multiple hamartoma syndrome
- Multiple organ dysfunction syndrome
- Multiple pterygium syndrome
- Munchausen syndrome
- Mungan syndrome
- Musical ear syndrome
- Mycosis fungoides
- Myelodysplastic syndrome
- Myoclonic astatic epilepsy
- Myofascial pain syndrome
- Myomatous erythrocytosis syndrome
- Möbius syndrome
- Müllerian agenesis
N
- Nablus mask-like facial syndrome
- Naegeli–Franceschetti–Jadassohn syndrome
- Nager acrofacial dysostosis
- Nail–patella syndrome
- Nakajo syndrome
- Nance–Horan syndrome
- Napoleonist Syndrome
- Nasodigitoacoustic syndrome
- Naxos syndrome
- Nelson's syndrome
- NEMO deficiency syndrome
- Neonatal ichthyosis–sclerosing cholangitis syndrome
- Nephritic syndrome
- Nephrotic syndrome
- Nerve compression syndrome
- Netherton syndrome
- Neu–Laxova syndrome
- Neuro-cardio-facial-cutaneous syndromes
- Neurofibromatosis type I
- Neuroleptic malignant syndrome
- Neuroleptic-Induced Deficit Syndrome
- Neutrophil immunodeficiency syndrome
- Nevo syndrome
- Nevoid basal-cell carcinoma syndrome
- Nezelof syndrome
- Nice Guy syndrome
- Nicolaides–Baraitser syndrome
- Nicolau–Balus syndrome
- Night eating syndrome
- Nijmegen breakage syndrome
- Njølstad syndrome
- Nodding disease
- Non-24-hour sleep–wake disorder
- Noonan syndrome with multiple lentigines
- Noonan syndrome
- Norman–Roberts syndrome
- Northern epilepsy syndrome
- Nutcracker syndrome
O
- Occipital horn syndrome
- Ocular ischemic syndrome
- Oculo-respiratory syndrome
- Oculoauricular syndrome
- Oculocerebrocutaneous syndrome
- Oculocerebrorenal syndrome
- Oculofaciocardiodental syndrome
- Oculomucocutaneous syndrome
- Odontoma dysphagia syndrome
- Odonto–tricho–ungual–digital–palmar syndrome
- Ogden Syndrome
- Ogilvie syndrome
- Ohtahara syndrome
- Olfactory reference syndrome
- Oliver–McFarlane syndrome
- Omenn syndrome
- One and a half syndrome
- Oneiroid syndrome
- Opitz G/BBB Syndrome
- Opsoclonus myoclonus syndrome
- Oral allergy syndrome
- Oral mite anaphylaxis
- Oral-facial-digital syndrome
- Orbital apex syndrome
- Organic brain syndrome
- Organic dust toxic syndrome
- Orofaciodigital syndrome 1
- Ortner's syndrome
- Os trigonum syndrome
- OSLAM syndrome
- Osler–Weber–Rendu disease
- Otodental syndrome
- Otofacial syndrome
- Ovarian hyperstimulation syndrome
- Ovarian vein syndrome
- Overgrowth syndrome
- Overlap syndrome
P
- Pacak–Zhuang syndrome
- Pacemaker syndrome
- Painful bruising syndrome
- Pallister–Hall syndrome
- Pallister–Killian syndrome
- Panayiotopoulos syndrome
- Pancoast tumor
- Pantothenate kinase-associated neurodegeneration
- PAPA syndrome
- Papillon–Lefèvre syndrome
- Papillorenal syndrome
- Papular purpuric gloves and socks syndrome
- Paraneoplastic acrokeratosis
- Paraneoplastic cerebellar degeneration
- Paraneoplastic syndrome
- Parental alienation syndrome
- Parinaud's oculoglandular syndrome
- Parinaud's syndrome
- Paris-Trousseau syndrome
- Parkes Weber syndrome
- Parkinson plus syndrome
- Paroxysmal hand hematoma
- Paroxysmal tachycardia
- Parry–Romberg syndrome
- Parsonage–Turner syndrome
- Partial androgen insensitivity syndrome
- Pashayan syndrome
- Patau syndrome
- Patellar subluxation syndrome
- Patellofemoral pain syndrome
- Patterson syndrome
- Pearson syndrome
- PANDAS
- Peeling skin syndrome
- PEHO syndrome
- Pellegrini–Stieda syndrome
- Pelvic congestion syndrome
- Pelvic pain
- Pemphigus erythematosus
- Pendred syndrome
- Penile Artery Shunt Syndrome
- Pentalogy of Cantrell
- Periodic fever syndrome
- Periodic fever, aphthous stomatitis, pharyngitis and adenitis
- Perisylvian syndrome
- Perlman syndrome
- Persistent adrenarche syndrome
- Persistent genital arousal disorder
- Persistent Müllerian duct syndrome
- Pervasive refusal syndrome
- Peters-plus syndrome
- Peutz–Jeghers syndrome
- Pfeiffer syndrome
- Phantom eye syndrome
- Phantom limb
- Phantom vibration syndrome
- Pickwickian syndrome
- Pigment dispersion syndrome
- Pigmented hairy epidermal nevus syndrome
- Pilotto syndrome
- Piriformis syndrome
- Pitt–Hopkins syndrome
- Plica syndrome
- Plummer–Vinson syndrome
- POEMS syndrome
- Poland syndrome
- Polar T3 syndrome
- Polio-like syndrome
- Polycystic ovary syndrome
- Popliteal artery entrapment syndrome
- Popliteal pterygium syndrome
- Porcine stress syndrome
- Pork–cat syndrome
- Post micturition convulsion syndrome
- Post nasal drip syndrome
- Post traumatic stress syndrome
- Post-acute-withdrawal syndrome
- Post-concussion syndrome
- Post-Ebola virus syndrome
- post-embolization syndrome
- Post-intensive care syndrome
- Post-maturity syndrome
- Post-polio syndrome
- Post-thrombotic syndrome
- Post-vasectomy pain syndrome
- Postcardiotomy syndrome
- Postcholecystectomy syndrome
- Posterior cerebral artery syndrome
- Posterior cord syndrome
- Posterior rami syndrome
- Posterior reversible encephalopathy syndrome
- Postgastrectomy syndromes
- Postorgasmic illness syndrome
- Postperfusion syndrome
- Postpericardiotomy syndrome
- Postural orthostatic tachycardia syndrome
- Potocki–Lupski syndrome
- Potocki–Shaffer syndrome
- Potter sequence
- Prader–Willi syndrome
- Pre-excitation syndrome
- Precordial catch syndrome
- Premenstrual syndrome
- Presumed ocular histoplasmosis syndrome
- Pretzel syndrome
- Primary pigmented nodular adrenocortical disease
- Primrose syndrome
- Progeroid syndromes
- Progressive supranuclear palsy
- Pronator teres syndrome
- Propofol infusion syndrome
- Proteus syndrome
- Proteus-like syndrome
- Prune belly syndrome
- Pseudo-Cushing's syndrome
- Pseudodementia
- Pseudoexfoliation syndrome
- Psychoorganic syndrome
- Puer aeternus
- Pulmonary leukostasis syndrome
- Pulmonary-renal syndrome
- Purple glove syndrome
- Purple urine bag syndrome
Q
- Qazi–Markouizos syndrome
- Quadrilateral space syndrome
- Queen bee syndrome
R
- Rabbit syndrome
- Rabson–Mendenhall syndrome
- Radial tunnel syndrome
- Rage syndrome
- Raghib syndrome
- Raine syndrome
- Ramos-Arroyo syndrome
- Ramsay Hunt syndrome type 1
- Ramsay Hunt syndrome type 2
- Ramsay Hunt syndrome
- RAPADILINO syndrome
- Rape trauma syndrome
- Rapp–Hodgkin syndrome
- Rapunzel syndrome
- Rasmussen syndrome
- RASopathy
- Raymond Céstan syndrome
- Raynaud syndrome
- Red ear syndrome
- Red man syndrome (Drug eruption)
- Refeeding syndrome
- Reactive arthritis
- Renal dysplasia-limb defects syndrome
- Renfield syndrome
- Renpenning's syndrome
- Restless legs syndrome
- Restrictive dermopathy
- Retinoic acid syndrome
- Retirement syndrome
- Rett syndrome
- Reversible cerebral vasoconstriction syndrome
- Revesz syndrome
- Reye syndrome
- Reynolds syndrome
- Reynolds' pentad
- Rh deficiency syndrome
- Riddoch syndrome
- Right middle lobe syndrome
- Riley-Day Syndrome
- Riley–Day syndrome
- Ring chromosome 14 syndrome
- Ring chromosome 20 syndrome
- Roberts syndrome
- Robinow syndrome
- Rochon-Duvigneaud's syndrome
- Roemheld syndrome
- ROHHAD
- Romano–Ward syndrome
- Rombo syndrome
- Rosenthal syndrome
- Rosenthal–Kloepfer syndrome
- Ross' syndrome
- Rosselli–Gulienetti syndrome
- Rothmund–Thomson syndrome
- Rotor syndrome
- Roussy–Lévy syndrome
- Rubinstein–Taybi syndrome
- Rud syndrome
- Rudiger syndrome
- Rumination syndrome
- Runting-stunting syndrome in broilers
- RUQ syndrome
- Ruzicka Goerz Anton syndrome
S
- Saal Bulas syndrome
- Saal Greenstein syndrome
- Sabinas brittle hair syndrome
- Sack–Barabas syndrome
- SACRAL syndrome
- Saethre–Chotzen syndrome
- SAHA syndrome
- Sakati–Nyhan–Tisdale syndrome
- Salt water aspiration syndrome
- Sandifer syndrome
- Sanfilippo syndrome
- Sanjad-Sakati syndrome
- SAPHO syndrome
- Satoyoshi syndrome
- Savant syndrome
- Say syndrome
- Say–Meyer syndrome
- Scalp–ear–nipple syndrome
- SCARF syndrome
- Scheie syndrome
- Schimmelpenning syndrome
- Schinzel–Giedion syndrome
- Schmitt Gillenwater Kelly syndrome
- Schnitzler syndrome
- Schwartz–Jampel syndrome
- Schöpf–Schulz–Passarge syndrome
- Scimitar syndrome
- Scott syndrome
- Seaver Cassidy syndrome
- Seckel syndrome
- Second-impact syndrome
- Secretan's syndrome
- Seed dispersal syndrome
- Senior–Løken syndrome
- Sensenbrenner syndrome
- Septo-optic dysplasia
- Serkal syndrome
- Serotonin syndrome
- Serpentine fibula-polycystic kidney syndrome
- Sertoli cell-only syndrome
- Serum sickness–like reaction
- Setleis syndrome
- Severe acute respiratory syndrome
- Shaken baby syndrome
- Shapiro syndrome
- Sheehan's syndrome
- Shell nail syndrome
- Shone's syndrome
- Short anagen syndrome
- Short bowel syndrome
- short limb syndrome
- Short man syndrome
- Short QT syndrome
- Short rib – polydactyly syndrome
- SHORT syndrome
- Shoulder hand syndrome (frozen shoulder)
- Shwachman–Diamond syndrome
- Shy-Drager syndrome
- Shy-Drager syndrome
- Sick building syndrome
- Sick sinus syndrome
- Silver–Russell syndrome
- Simpson–Golabi–Behmel syndrome
- Singleton Merten syndrome
- Situs ambiguus
- Sjögren's syndrome
- Sjögren–Larsson syndrome
- Skeeter syndrome
- Skin fragility syndrome
- Sliding uncus syndrome
- Slit ventricle syndrome
- Sly syndrome
- Small intestinal bacterial overgrowth
- Small Penis Syndrome
- Smith Martin Dodd syndrome
- Smith–Fineman–Myers syndrome
- Smith–Lemli–Opitz syndrome
- Smith–Magenis syndrome
- Snapping hip syndrome
- Snapping scapula syndrome
- Sneddon's syndrome
- Solipsism syndrome
- somatostatinoma syndrome
- Sopite syndrome
- Sotos syndrome
- Space adaptation syndrome
- Spastic ataxia-corneal dystrophy syndrome
- Spider lamb syndrome
- Splenic flexure syndrome
- Split hand syndrome
- Spondylo-ocular syndrome
- SPRED1
- Staphylococcal scalded skin syndrome
- STAR syndrome
- Stauffer syndrome
- Stendhal syndrome
- Steroid dementia syndrome
- Stevens–Johnson syndrome
- Stewart–Treves syndrome
- Stickler syndrome
- Sticky platelet syndrome
- Sticky skin syndrome
- Stiff person syndrome
- Stiff skin syndrome
- Stimmler syndrome
- Stockholm syndrome
- Straight back syndrome
- Stratton Parker syndrome
- Streff syndrome
- Strømme syndrome
- Stuck song syndrome
- Student syndrome
- Sturge–Weber syndrome
- Subclavian steal syndrome
- Sudden death syndrome
- Sudden infant death syndrome
- Sudden wealth syndrome
- Sugarman syndrome
- Sulfonamide hypersensitivity syndrome
- Summer penile syndrome
- Sundowning
- Superior mesenteric artery syndrome
- Superior orbital fissure syndrome
- Superior vena cava syndrome
- Supernumerary nipples–uropathies–Becker's nevus syndrome
- Supernumerary phantom limb
- Survivor syndrome
- Susac's syndrome
- Sweet's syndrome
- Swyer–James syndrome
- Syndrome of inappropriate antidiuretic hormone secretion
- Syndrome of subjective doubles
- Syndrome Without A Name
- HHH syndrome
- Systemic inflammatory response syndrome
- Sézary disease
T
- Talk and die syndrome
- TAN syndrome
- TAR syndrome
- Tardive dyskinesia
- Tardive psychosis
- Tardive syndrome
- Tarsal tunnel syndrome
- Taura syndrome
- Taussig–Bing syndrome
- Tea and toast syndrome
- TEMPI syndrome
- Temple–Baraitser syndrome
- Tension myositis syndrome
- Terson syndrome
- Testicular dysgenesis syndrome
- Tetra-amelia syndrome
- Tetralogy of Fallot
- Teunissen–Cremers syndrome
- Thevenard syndrome
- Thoracic insufficiency syndrome
- Thoracic outlet syndrome
- Thorn's Syndrome
- Thrombotic thrombocytopenic purpura
- Thymoma with immunodeficiency
- Tietz syndrome
- Tietze syndrome
- tight lens syndrome
- Timothy syndrome
- TNF receptor associated periodic syndrome
- Tolosa–Hunt syndrome
- Tonic tensor tympani syndrome
- Tooth and nail syndrome
- TORCH syndrome
- Tourette syndrome
- Townes–Brocks syndrome
- Toxic anterior segment syndrome
- Toxic oil syndrome
- Toxic shock syndrome
- Tracheobronchomegaly
- Transurethral resection of the prostate syndrome
- Transverse myelitis
- Treacher Collins syndrome
- Trench foot
- Tricho-hepato-enteric syndrome
- Trichothiodystrophy
- Tricho–dento–osseous syndrome
- Tricho–rhino–phalangeal syndrome
- Trigeminal trophic syndrome
- Triple X syndrome
- Triploid syndrome
- Trisomy 8
- Tropical splenomegaly syndrome
- Trotter's syndrome
- Truman Syndrome
- Tsukuhara syndrome
- Tumor lysis syndrome
- Tumor necrosis factor receptor associated periodic syndrome
- Turner syndrome
- Twiddler's syndrome
- Twin Anemia-Polycythemia Sequence
- Twin-to-twin transfusion syndrome
U
- Untilitant Brainstem Syndrome
- Uorica Abdominal Wall
- Utility brainstem
- Ulysses syndrome
- Uncombable hair syndrome
- Uner Tan syndrome
- Upper airway resistance syndrome
- Upper motor neuron syndrome
- Upshaw–Schulman syndrome
- Urban survival syndrome
- Urban–Rogers–Meyer syndrome
- Urethral syndrome
- Urofacial syndrome
- Urticarial vasculitis
- Usher syndrome
- UV-sensitive syndrome
V
- VACTERL association
- Valentino's syndrome
- Van der Woude syndrome
- van Gogh syndrome
- Van Wyk and Grumbach syndrome
- Vanishing bile duct syndrome
- Vascular access steal syndrome
- Vasoplegic syndrome
- Vestibulocerebellar syndrome
- Vici syndrome
- Villaret’s syndrome
- VIP syndrome
- VIPoma
- Visual looming syndrome
- Vitreous touch syndrome
- Vogt–Koyanagi–Harada disease
- Von Hippel–Lindau disease
- Vulvodynia
W
- Waardenburg syndrome
- WAGR syndrome
- Walker–Warburg syndrome
- Wallis–Zieff–Goldblatt syndrome
- Waltman Walter syndrome
- Warkany syndrome 1
- Warmblood Fragile Foal Syndrome
- Wartenberg's Syndrome
- Waterhouse–Friderichsen syndrome
- Watson syndrome
- Weaver syndrome
- Weber's syndrome
- Weill–Marchesani syndrome
- Weismann-Netter–Stuhl syndrome
- Weissenbacher–Zweymüller syndrome
- Wellens' syndrome
- Wende–Bauckus syndrome
- Werner syndrome
- Wernicke–Korsakoff syndrome
- West syndrome
- Westerhof syndrome
- Wet lung syndrome in newborn
- WHIM syndrome
- White dog shaker syndrome
- White dot syndromes
- White spot syndrome
- White-nose syndrome
- widower syndrome
- Wiedemann-Steiner syndrome
- Wiedemann–Rautenstrauch syndrome
- Wildervanck syndrome
- Williams syndrome
- Williams–Campbell syndrome
- Wilson's temperature syndrome
- Wilson–Mikity syndrome
- Wilson–Turner syndrome
- Winchester syndrome
- Winter-over syndrome
- Wiskott–Aldrich syndrome
- Wissler's syndrome
- Withdrawal syndrome
- Withering abalone syndrome
- Wobbly hedgehog syndrome
- Wolcott–Rallison syndrome
- Wolff–Parkinson–White syndrome
- Wolfram syndrome
- Wolf–Hirschhorn syndrome
- Woodhouse–Sakati syndrome
- Work-related musculoskeletal disorders
- Worster-Drought syndrome
- Worth syndrome
- Wrinkly skin syndrome
X
Y
Z
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