1.

13q deletion syndrome

2. 17q21.31 microdeletion syndrome
3. 1p36 deletion syndrome
4. 1q21.1 deletion syndrome
5. 1q21.1 duplication syndrome
6. 22q11.2 distal deletion syndrome
7. 22q11.2 duplication syndrome
8. 22q13 deletion syndrome
9. 2p15-16.1 microdeletion syndrome
10. 2q37 deletion syndrome
11. 3-M syndrome
12. 3C syndrome
13. 3q29 microdeletion syndrome
14. 49,XXXXY
15. 4D syndrome
16. 8p23.1 duplication syndrome
17. 9q34 deletion syndrome

A[edit]
1. Aagenaes syndrome
2. Aarskog–Scott syndrome
3. Aase syndrome
4. Abandoned child syndrome
5. ABCD syndrome
6. Abdallat–Davis–Farrage syndrome
7. Abderhalden–Kaufmann–Lignac syndrome
8. Abdominal compartment syndrome
9. abdominal wall pain syndrome
10. Ablepharon macrostomia syndrome
11. Abruzzo–Erickson syndrome
12. Achard syndrome
13. Achard–Thiers syndrome
14. Ackerman syndrome
15. Acorea, microphthalmia and cataract syndrome
16. Acrocallosal syndrome
17. Acropectoral syndrome
18. Acro–dermato–ungual–lacrimal–tooth syndrome
19. Activation syndrome
20. Acute aortic syndrome
21. Acute brain syndrome
22. Acute chest syndrome
23. Acute coronary syndrome
24. Acute HME syndrome
25. Acute interstitial pneumonitis
26. Acute motor axonal neuropathy
27. acute platelete activation syndrome
28. Acute radiation syndrome
29. Acute respiratory distress syndrome
30. Acute retroviral syndrome
31. Adams–Nance syndrome
32. Adams–Oliver syndrome
33. Adams–Stokes syndrome
34. Adducted thumb syndrome
35. Adie syndrome
36. Adiposogenital dystrophy
37. Adult-onset immunodeficiency syndrome
38. Advanced sleep phase disorder
39. Aerotoxic syndrome
40. Afferent loop syndrome
41. Aicardi syndrome
42. Aicardi–Goutières syndrome
43. AIDS dysmorphic syndrome
44. Al-Raqad syndrome
45. Alagille syndrome
46. Albinism–deafness syndrome
47. Alcohol withdrawal syndrome
48. Alezzandrini syndrome
49. Alice in Wonderland syndrome
50. Alien hand syndrome
51. Allan–Herndon–Dudley syndrome
52. Allopurinol hypersensitivity syndrome
53. Alopecia contractures dwarfism mental retardation syndrome
54. Alpha-thalassemia mental retardation syndrome
55. Alport syndrome
56. Alström syndrome
57. Alvarez' syndrome
58. Amennorrhea-galactorrhea syndrome
59. Amniotic band constriction
60. Amotivational syndrome
61. Amplified musculoskeletal pain syndromes
62. Andermann syndrome
63. Andersen–Tawil syndrome
64. Androgen insensitivity syndrome
65. Angelman syndrome
66. ANOTHER syndrome
67. Anterior cerebral artery syndrome
68. Anterior compartment syndrome
69. Anterior cutaneous nerve entrapment syndrome
70. Anterior interosseous syndrome
71. Anterior spinal artery syndrome
72. Anticonvulsant hypersensitivity syndrome
73. Antidepressant discontinuation syndrome
74. Antiphospholipid syndrome
75. Antisynthetase syndrome
76. Antley–Bixler syndrome
77. Anton–Babinski syndrome
78. Aortic arch syndrome
79. Aortocaval compression syndrome
80. Apert syndrome
81. Apparent mineralocorticoid excess syndrome
82. Arakawa's syndrome II
83. Ardalan–Shoja–Kiuru syndrome
84. AREDYLD syndrome
85. Aromatase excess syndrome
86. Arterial tortuosity syndrome
87. Arthrogryposis–renal dysfunction–cholestasis syndrome
88. Arts syndrome
 89. Ascher's syndrome
90. Asherman's syndrome
91. Asperger's syndrome (labeled here with link as Asperger syndrome
92. Asymmetric crying facies
93. Ataxia-pancytopenia syndrome
94. Ataxia-telangiectasia
95. Athletic heart syndrome
96. Athymhormic syndrome
97. ATR-16 syndrome
98. Atrophodermia vermiculata
99. Atypical hemolytic uremic syndrome
100. Austrian syndrome
101. Autoimmune disease
102. Autoimmune lymphoproliferative syndrome
103. Autoimmune polyendocrine syndrome type 1
104. Autoimmune polyendocrine syndrome type 2
105. Autoimmune polyendocrine syndrome type 3
106. Autoimmune polyendocrine syndrome
107. Autoinflammatory syndromes
108. Avellis syndrome
109. Axenfeld syndrome
110. Axial spondyloarthritis
111. Ayazi syndrome

B[edit]
1. Babinski–Nageotte syndrome
2. Baboon syndrome
3. Baggio–Yoshinari syndrome
4. Baller–Gerold syndrome
5. Bamforth–Lazarus syndrome
6. Bangstad syndrome
7. Bannayan–Riley–Ruvalcaba syndrome
8. Banti's syndrome
9. Barakat syndrome
10. Barakat-Perenthaler syndrome
11. Bardet–Biedl syndrome
12. Bare lymphocyte syndrome type II
13. Bare lymphocyte syndrome
14. Barlow's syndrome
15. Barraquer–Simons syndrome
16. Bart syndrome
17. Barth syndrome
18. Bartter syndrome
19. Bart–Pumphrey syndrome
20. Bassen-Kornzweig syndrome
21. Battered person syndrome
22. Bazex–Dupré–Christol syndrome
23. Beare–Stevenson cutis gyrata syndrome
24. Beckwith–Wiedemann syndrome
25. Behcet's syndrome
26. Behr syndrome
27. Benedikt syndrome
28. Benign fasciculation syndrome
29. Benjamin syndrome
 30. Benzodiazepine withdrawal syndrome
31. Berdon syndrome
32. Berk–Tabatznik syndrome
33. Bernard–Soulier syndrome
34. Berserk llama syndrome
35. Bhaskar–Jagannathan syndrome
36. Biemond syndrome
37. Bilious vomiting syndrome
38. Binder's syndrome
39. Bing–Neel syndrome
40. Birt–Hogg–Dubé syndrome
41. Björnstad syndrome
42. Bland-White-Garland syndrome
43. Blau syndrome
44. Blepharophimosis, ptosis, epicanthus inversus syndrome
45. Blind loop syndrome
46. Bloom syndrome
47. Blount's disease
48. Blue baby syndrome
49. Blue diaper syndrome
50. Blue rubber bleb nevus syndrome
51. Blue toe syndrome
52. Bobble-head doll syndrome
53. Body fat redistribution syndrome
54. Boehm syndrome
55. Boerhaave syndrome
56. Bogart–Bacall syndrome
57. Bohring–Opitz syndrome
58. Bonnet–Dechaume–Blanc syndrome
59. Bowen–Conradi syndrome
60. Brachycephalic airway obstructive syndrome
61. Brainstem stroke syndrome
62. Branchio-oculo-facial syndrome
63. Branchio-oto-renal syndrome
64. Bromism
65. Brown's syndrome
66. Brown-Séquard syndrome
67. Brown–Vialetto–Van Laere syndrome
68. Bruck syndrome
69. Brugada syndrome
70. Brunner syndrome
71. Budd–Chiari syndrome
72. Burning feet syndrome
73. Burning mouth syndrome
74. Burnside-Butler syndrome
75. Buschke–Ollendorff syndrome
76. Bálint's syndrome
77. Börjeson-Forssman-Lehmann syndrome

C[edit]
1. CADASIL
2. CAMFAK syndrome
3. Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
4. Cancer syndrome
5. Cancer-related fatigue
6. CANDLE syndrome
7. Canine epileptoid cramping syndrome
8. Cannabinoid hyperemesis syndrome (CHS)
9. Cantú syndrome
10. Capgras delusion
11. Capgras syndrome
12. Capillary leak syndrome
13. Caplan's syndrome
14. Carcinoid syndrome
15. Cardiac syndrome X
16. Cardiofaciocutaneous syndrome
17. Cardiorenal syndrome
18. Cardiovascular syndrome
19. Carney complex
20. Caroli disease
21. Carpal tunnel syndrome
22. Carpenter syndrome
23. Cat eye syndrome
24. Cataract-microcornea syndrome
25. Catastrophic antiphospholipid syndrome
26. Catel–Manzke syndrome
27. Cauda equina syndrome
28. Caudal regression syndrome
29. CDK13-related disorder
30. Celebrity worship syndrome
31. Central centrifugal cicatricial alopecia
32. Central cord syndrome
33. Central nervous system syndrome
34. Central pain syndrome
35. Cerebellar cognitive affective syndrome
36. Cerebellar stroke syndrome
37. Cerebellopontine angle syndrome
38. Cerebral salt-wasting syndrome
39. cervical disc syndrome
40. Cervical syndrome
41. Cervicocranial syndrome
42. Charcot–Marie–Tooth disease
43. CHARGE syndrome
44. Charles Bonnet syndrome
45. Chiari–Frommel syndrome
46. Chiasmal syndrome
47. Chilaiditi syndrome
48. Child sexual abuse accommodation syndrome
49. CHILD syndrome
50. childhood myelodysplastic syndrome
51. Childhood tumor syndrome
52. Chinese Restaurant Syndrome
53. Chromosomal deletion syndrome
54. Chromosome 5q deletion syndrome
55. Chronic fatigue syndrome
56. Chronic functional abdominal pain
57. Chronic infantile neurologic cutaneous and articular syndrome
58. Chronic Lyme disease
59. Chronic prostatitis/chronic pelvic pain syndrome
60. Churg-Strauss syndrome
61. Chédiak–Higashi syndrome
62. Claude's syndrome
63. Clinically isolated syndrome
64. CLOVES syndrome
65. COACH syndrome
66. Cobb syndrome
67. Cockayne syndrome
68. Coffin–Lowry syndrome
69. Coffin–Siris syndrome
70. Cogan syndrome
71. Cohen syndrome
72. Compartment syndrome
73. Complement deficiency
74. Complete androgen insensitivity syndrome
75. Complex regional pain syndrome
76. Computer vision syndrome
77. Congenital bilateral perisylvian syndrome
78. Congenital generalized lipodystrophy
79. Congenital insensitivity to pain
80. Congenital myasthenic syndrome
81. Congenital nephrotic syndrome
82. Congenital rubella syndrome
83. Conn's syndrome
84. Conorenal syndrome
85. Conradi–Hünermann syndrome
86. Constriction ring syndrome
87. Contiguous gene syndrome
88. Conus medullaris syndrome
89. Cooks syndrome
90. Cord colitis syndrome
91. Corneal-cerebellar syndrome
92. Cornelia de Lange Syndrome
93. Corneodermatoosseous syndrome
94. Coronary steal
95. Costeff syndrome
96. Costello syndrome
97. Cotard delusion
98. Cotard's Syndrome
99. Cotton fever
100. Cowden syndrome
101. Cracked tooth syndrome
102. Cramp fasciculation syndrome
103. Crandall syndrome
104. Craniosynostosis–anal anomalies–porokeratosis syndrome
105. Cranio-lenticulo-sutural dysplasia
106. CREST syndrome
107. Cri du chat
108. Crigler–Najjar syndrome
109. Crome syndrome
110. Cronkhite–Canada syndrome
111. Cross syndrome
112. Crouzon syndrome
113. Crouzonodermoskeletal syndrome
114. Crush syndrome
115. Cruveilhier-Baumgarten syndrome
116. Cryopyrin-associated periodic syndrome
 117. Cuboid syndrome
118. Currarino syndrome
119. CuRRL syndrome
120. Cushing's syndrome
121. Cyclic vomiting syndrome
122. Cytokine release syndrome

D[edit]
1. Da Costa's syndrome
2. Daentl Townsend Siegel syndrome
3. Dahlberg Borer Newcomer syndrome
4. Dandy–Walker syndrome
5. De Barsy syndrome
6. de Clérambault's syndrome
7. De Quervain syndrome
8. Dead arm syndrome
9. Deficiency of the interleukin-1–receptor antagonist
10. Degenerative disc disease
11. Dejerine–Roussy syndrome
12. Delayed sleep phase disorder
13. Delusional misidentification syndrome
14. Delusional parasitosis
15. Dennie–Marfan syndrome
16. Dentomandibular sensorimotor dysfunction
17. Denys–Drash syndrome
18. DeSanctis–Cacchione syndrome
19. Descending perineum syndrome
20. Diabetic stiff hand syndrome
21. Dialysis disequilibrium syndrome
22. Diencephalic syndrome
23. Diffuse infiltrative lymphocytosis syndrome
24. DiGeorge syndrome
25. Diogenes syndrome
26. Diploid triploid mosaic
27. Disconnection syndrome
28. Distal 18q-
29. Distal intestinal obstruction syndrome
30. Distal trisomy 10q
31. Doege–Potter syndrome
32. Donnai–Barrow syndrome
33. Donohue syndrome
34. DOOR syndrome
35. Dopamine dysregulation syndrome
36. Down syndrome
37. Dravet syndrome
38. Dressler syndrome
39. Drug reaction with eosinophilia and systemic symptoms
40. Dry eye syndrome
41. Duane syndrome
42. Duane-radial ray syndrome
43. Dubin–Johnson syndrome
44. Dubowitz syndrome
45. Dumping syndrome
46. dysarthria-clumsy hand syndrome
 47. Dysexecutive syndrome
48. Dyskeratosis congenita
49. Dysplastic nevus syndrome

E[edit]
1. Eagle syndrome
2. EAST syndrome
3. Ectrodactyly–ectodermal dysplasia–cleft syndrome
4. Edwards syndrome
5. EEM syndrome
6. Egg drop syndrome
7. Ehlers–Danlos syndrome
8. Eiken syndrome
9. Einstein syndrome
10. Eisenmenger's syndrome
11. Eldomery-Sutton syndrome
12. Elejalde syndrome
13. Ellis–van Creveld syndrome
14. Emanuel syndrome
15. Empty nest syndrome
16. Empty nose syndrome
17. Empty sella syndrome
18. Enlarged vestibular aqueduct syndrome
19. Environmental dependency syndrome
20. Eosinophilia–myalgia syndrome
21. Eosinophilic cellulitis
22. Epidermal nevus syndrome
23. Epilepsy syndromes
24. Episodic dyscontrol syndrome
25. Epizootic ulcerative syndrome
26. Erdheim–Chester disease
27. Erondu–Cymet syndrome
28. Estrogen insensitivity syndrome
29. Euthyroid sick syndrome
30. Evans syndrome
31. Excess ovarian androgen release syndrome
32. Exploding head syndrome
33. Extrapyramidal symptoms

F[edit]
1. FACES syndrome
2. Facet syndrome
3. Facial Onset Sensory Motor Neuropathy syndrome
4. Fahr's syndrome
5. Failed back syndrome
6. familial cholestasis syndrome
7. Familial cold autoinflammatory syndrome
8. Familial Mediterranean fever
9. Familial partial lipodystrophy
10. Fanconi syndrome
11. Favre–Racouchot syndrome
12. Febrile infection-related epilepsy syndrome
 13. Febrile neutrophilic dermatosis
14. Fechtner syndrome
15. Feingold syndrome
16. Feline hyperesthesia syndrome
17. Felty's syndrome
18. Femur fibula ulna syndrome
19. Fetal alcohol syndrome
20. Fetal hydantoin syndrome
21. Fetal trimethadione syndrome
22. Fetal warfarin syndrome
23. FG syndrome
24. Fibrinolysis syndrome
25. Fibromyalgia syndrome
26. Fibromyalgia
27. First arch syndrome
28. Fish acute toxicity syndrome
29. Fitz-Hugh–Curtis syndrome
30. Fitzsimmons–Guilbert syndrome
31. Flammer syndrome
32. Fleischer's syndrome
33. Floating–Harbor syndrome
34. Floppy eyelid syndrome
35. Floppy trunk syndrome
36. Florid cutaneous papillomatosis
37. Flynn–Aird syndrome
38. Foal immunodeficiency syndrome
39. Foerster's syndrome
40. Foix–Alajouanine syndrome
41. Foix–Chavany–Marie syndrome
42. Folie à deux
43. Follicle-stimulating hormone insensitivity
44. foramen magnum compression syndrome
45. Forbes-Albright syndrome
46. Foreign accent syndrome
47. Foster–Kennedy syndrome
48. Fountain syndrome
49. Foville's syndrome
50. Fragile X syndrome
51. Fragile X-associated tremor/ataxia syndrome
52. Franceschetti–Klein syndrome
53. Frank–ter Haar syndrome
54. Fraser syndrome
55. Frasier syndrome
56. Freeman–Sheldon syndrome
57. Frey's syndrome
58. Froin's syndrome
59. Fryns syndrome
60. Functional somatic syndrome

G[edit]
1. Gaisböck syndrome
2. Galloway Mowat syndrome
3. GAPO syndrome
4. Gardner's syndrome
 5. Gastric outlet obstruction
6. Gastrocutaneous syndrome
7. Gastrointestinal syndrome
8. Genitopatellar syndrome
9. Gerstmann syndrome
10. Gerstmann–Sträussler–Scheinker syndrome
11. Geschwind syndrome
12. Gianotti–Crosti syndrome
13. Giant platelet disorder
14. Gilbert's syndrome
15. Gillespie syndrome
16. Gitelman syndrome
17. Gleich's syndrome
18. GMS syndrome
19. Goldberg–Shprintzen syndrome
20. Goldenhar syndrome
21. Gomez and López-Hernández syndrome
22. Gonadotropin insensitivity
23. Gonadotropin-releasing hormone insensitivity
24. Goodpasture syndrome
25. Gordon syndrome
26. Gougerot–Blum syndrome
27. Gourmand syndrome
28. Gouverneur’s syndrome
29. GRACILE syndrome
30. Graham-Little syndrome
31. Gray baby syndrome
32. Gray platelet syndrome
33. Grayson-Wilbrandt corneal dystrophy
34. Greater trochanteric pain syndrome
35. Green nail syndrome
36. Greig cephalopolysyndactyly syndrome
37. Grinspan's syndrome
38. Griscelli syndrome type 2
39. Griscelli syndrome type 3
40. Griscelli syndrome
41. Grisel's syndrome
42. Growing teratoma syndrome
43. Guillain–Barré syndrome
44. Gulf War syndrome

H[edit]
1. Haber syndrome
2. Hagemoser–Weinstein–Bresnick syndrome
3. Haglund's syndrome
4. Haim–Munk syndrome
5. Hajdu–Cheney syndrome
6. Halal syndrome
7. Hallermann–Streiff syndrome
8. Hamman's syndrome
9. Hamman-Rich syndrome
10. Hand-foot-genital syndrome
11. Handigodu syndrome
12. Hanhart syndrome
13. Hantavirus pulmonary syndrome
14. Hapnes Boman Skeie syndrome
15. Harlequin syndrome
16. Harris platelet syndrome
17. Harrison syndrome
18. Havana syndrome
19. Hay–Wells syndrome
20. Hearing loss with craniofacial syndromes
21. HEC syndrome
22. Heel pad syndrome
23. Heel spur syndrome
24. Heerfordt syndrome
25. HELLP syndrome
26. Hemihyperplasia–multiple lipomatosis syndrome
27. Hemimegalencephaly
28. Hemispatial neglect
29. Hemoglobin Lepore syndrome
30. Hemolytic-uremic syndrome
31. Hennekam syndrome
32. Hepatopulmonary syndrome
33. Hepatorenal syndrome
34. Hereditary breast–ovarian cancer syndrome
35. Hereditary hyperbilirubinemia
36. Hereditary leiomyomatosis and renal cell cancer syndrome
37. Hereditary neuralgic amyotrophy
38. Hereditary nonpolyposis colorectal cancer
39. Hermansky–Pudlak syndrome
40. Hero syndrome
41. Heyde's syndrome
42. High-rise syndrome
43. Hinman syndrome [de] (Lazy bladder syndrome)
44. HIV/AIDS
45. Holiday heart syndrome
46. Holt–Oram syndrome
47. Hopkins syndrome
48. Horn-Kolb syndrome
49. Horner's syndrome
50. Howel–Evans syndrome
51. Hoyeraal-Hreidarsson syndrome
52. Ho–Kaufman–Mcalister syndrome
53. Hughes–Stovin syndrome
54. Hunan hand syndrome
55. Hunter syndrome
56. Huntington's disease-like syndrome
57. HUPRA syndrome
58. Hurler syndrome
59. Hurler–Scheie syndrome
60. Hutchinson–Gilford progeria syndrome
61. Hydrolethalus syndrome
62. Hyper IgM syndrome
63. Hyper-IgD syndrome
64. Hyper-IgM syndrome type 1
65. Hyper-IgM syndrome type 2
66. Hyper-IgM syndrome type 3
67. Hyper-IgM syndrome type 4
68. Hyper-IgM syndrome type 5
 69. Hyperimmunoglobulin D syndrome
70. Hyperimmunoglobulin E syndrome
71. hyperleukocytosis syndrome
72. Hypermobility syndrome
73. Hyperosmolar syndrome
74. Hyperprolactinaemia
75. Hyperprolactinemic SAHA syndrome
76. Hypertension and brachydactyly syndrome
77. Hypertrichosis cubiti
78. Hyperventilation syndrome
79. Hyperviscosity syndrome
80. Hypohidrotic ectodermal dysplasia
81. Hypoplastic left heart syndrome
82. Hypoplastic right heart syndrome
83. Hypotonia
84. Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis
syndrome
85. Hypotrichosis–lymphedema–telangiectasia syndrome
86. Hystrix-like ichthyosis–deafness syndrome

I[edit]
1. Ichthyosis follicularis with alopecia and photophobia syndrome
2. Ichthyosis prematurity syndrome
3. Idiopathic pneumonia syndrome
4. Idiopathic postprandial syndrome
5. Idiopathic pure sudomotor failure
6. Iliotibial band syndrome
7. Imerslund–Gräsbeck syndrome
8. Immersion foot syndromes
9. Immune reconstitution inflammatory syndrome
10. Immunodeficiency–centromeric instability–facial anomalies syndrome
11. Impingement syndrome
12. Impossible syndrome
13. Incontinentia pigmenti
14. Infant respiratory distress syndrome
15. Inferior vena cava syndrome
16. Infertility in polycystic ovary syndrome
17. Influenza-like illness
18. Institutional syndrome
19. Intersection syndrome
20. Interstitial cystitis
21. Intracranial hypertension syndrome
22. Intraoperative floppy iris syndrome
23. Intravenous marijuana syndrome
24. IPEX syndrome
25. Iridocorneal endothelial syndrome
26. Irlen syndrome
27. Irregular sleep–wake rhythm
28. irritable bladder syndrome
29. Irritable bowel syndrome
30. Irritable male syndrome
31. Irukandji syndrome
32. Irvine–Gass syndrome
33. Isolated brainstem syndrome
J[edit]
1. Jackson–Weiss syndrome
2. Jacobsen syndrome
3. Jaffe–Campanacci syndrome
4. Jalili syndrome
5. Jansen's metaphyseal chondrodysplasia
6. Janz syndrome
7. Jeavons syndrome
8. Jervell and Lange-Nielsen syndrome
9. Johanson–Blizzard syndrome
10. Johnson–McMillin syndrome
11. Johnson–Munson syndrome
12. Joubert syndrome
13. Juberg-Hellman syndrome
14. Jugular foramen syndrome
15. Juvenile polyposis syndrome

K[edit]
1. Kabuki syndrome
2. Kallmann syndrome
3. Kapur–Toriello syndrome
4. Karak syndrome
5. Kartagener's syndrome
6. Kasabach–Merritt syndrome
7. Katz syndrome
8. Kaufman oculocerebrofacial syndrome
9. Kearns–Sayre syndrome
10. Keppen–Lubinsky syndrome
11. Keratitis–ichthyosis–deafness syndrome
12. Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
13. Keutel syndrome
14. Kimmelstiel-Wilson syndrome
15. Kindler syndrome
16. King–Kopetzky syndrome
17. Kleine–Levin syndrome
18. Klinefelter syndrome
19. Klinefelter syndrome
20. Klippel–Feil syndrome
21. Klippel–Trénaunay syndrome
22. Klüver–Bucy syndrome
23. Knobloch syndrome
24. Kocher–Debre–Semelaigne syndrome
25. Kohlschütter-Tönz syndrome
26. Korsakoff's syndrome
27. Kostmann syndrome
28. Kounis syndrome
29. Kowarski syndrome
30. Kufor–Rakeb syndrome
31. König's syndrome

L[edit]
1. Lachiewicz–Sibley syndrome
2. Lacunar Stroke Syndrome
3. Lambert–Eaton myasthenic syndrome
4. Landau–Kleffner syndrome
5. Langer–Giedion syndrome
6. Laron syndrome
7. Larsen syndrome
8. Laryngoonychocutaneous syndrome
9. Lateral medullary syndrome
10. Lateral meningocele syndrome
11. Lateral pontine syndrome
12. Laugier–Hunziker syndrome
13. Laurence–Moon syndrome
14. Lavender foal syndrome
15. Lavender Town
16. Lawrence–Seip syndrome
17. Lazarus syndrome
18. Leaky gut syndrome
19. Legg–Calvé–Perthes disease
20. Legius syndrome
21. Leiner's disease
22. Lelis syndrome
23. Lemierre's syndrome
24. Lennox–Gastaut syndrome
25. Lenz microphthalmia syndrome
26. Lenz–Majewski syndrome
27. Leriche's syndrome
28. Leschke syndrome
29. Lesch–Nyhan syndrome
30. Lethal congenital contracture syndrome
31. Lethal white syndrome
32. Leukotriene receptor antagonist-associated Churg–Strauss syndrome
33. Levator ani syndrome
34. Leydig cell hypoplasia
35. Liddle's syndrome
36. Liebenberg syndrome
37. LIG4 syndrome
38. Lima syndrome
39. Limb girdle syndrome
40. Limber tail syndrome
41. Limb–mammary syndrome
42. Linburg–Comstock syndrome
43. Li–Fraumeni syndrome
44. Locked-in syndrome
45. Loeys–Dietz syndrome
46. Loin pain hematuria syndrome
47. Long face syndrome
48. Long QT syndrome
49. Loose anagen syndrome
50. Lown–Ganong–Levine syndrome
51. Lowry–MacLean syndrome
52. Lucey–Driscoll syndrome
53. Lujan–Fryns syndrome
54. lumbar disc syndrome
55. Lupus-like syndrome
56. Lutembacher's syndrome
 57. Lymphangitis carcinomatosa
58. Lymphedema–distichiasis syndrome
59. Lynch Syndrome
60. Lyngstadaas syndrome
61. Löffler's syndrome
62. Löfgren syndrome

M[edit]
1. M74 syndrome
2. Macrocephaly-capillary malformation
3. Macrophage activation syndrome
4. Maffucci syndrome
5. Majeed syndrome
6. Majewski's polydactyly syndrome
7. Mal de debarquement
8. Malformative syndrome
9. Mallory–Weiss syndrome
10. Malnutrition–inflammation complex
11. Malouf syndrome
12. Malpuech facial clefting syndrome
13. Management of chronic headaches
14. Manning criteria
15. Marchiafava–Bignami disease
16. Marden–Walker syndrome
17. Mare reproductive loss syndrome
18. Marfan syndrome
19. Marfanoid–progeroid–lipodystrophy syndrome
20. Marie Antoinette syndrome
21. Marinesco–Sjögren syndrome
22. Maroteaux–Lamy syndrome
23. Marshall syndrome
24. Marshall–Smith syndrome
25. Marshall–White syndrome
26. MASA syndrome
27. masquerade syndrome
28. Mast cell activation syndrome
29. Mauriac syndrome
30. Mayer–Rokitansky–Küster–Hauser syndrome
31. May–Thurner syndrome
32. May–White syndrome
33. McArdle syndrome
34. McCune–Albright syndrome
35. McCusick syndrome
36. McGillivray syndrome
37. McKittrick-Wheelock Syndrome
38. McKusick–Kaufman syndrome
39. McLeod syndrome
40. MDP syndrome
41. Mean world syndrome
42. Meckel syndrome
43. Meconium aspiration syndrome
44. Medial medullary syndrome
45. Medial pontine syndrome
46. Median arcuate ligament syndrome
47. Medical students' disease
48. MEDNIK syndrome
49. Megavitamin-B6 syndrome
50. Meige's syndrome
51. Meigs' syndrome
52. MELAS syndrome
53. Melkersson–Rosenthal syndrome
54. Melnick–Needles syndrome
55. Memory distrust syndrome
56. Mendelson's syndrome
57. Menkes disease
58. MERRF syndrome
59. Metabolic syndrome
60. Michelin tire baby syndrome
61. Michels Caskey syndrome
62. Michels syndrome
63. Mickleson syndrome
64. Micro syndrome
65. Microdeletion syndrome
66. Microphthalmia–dermal aplasia–sclerocornea syndrome
67. Middle cerebral artery syndrome
68. Middle child syndrome
69. Middle East respiratory syndrome
70. Mikulicz syndrome
71. Mild androgen insensitivity syndrome
72. Milk-alkali syndrome
73. Millard–Gubler syndrome
74. Miller Fisher syndrome
75. Miller syndrome
76. Miller–Dieker syndrome
77. Milroy's disease
78. Milwaukee shoulder syndrome
79. Mirhosseini–Holmes–Walton syndrome
80. Mirizzi's syndrome
81. Mirror syndrome
82. Mismatch repair cancer syndrome
83. Mitochondrial DNA depletion syndrome
84. Mitochondrial neurogastrointestinal encephalopathy syndrome
85. Mitral valve prolapse
86. Mittelschmerz
87. Mohr–Tranebjærg syndrome
88. MOMO syndrome
89. Monofixation syndrome
90. MonoMAC
91. mononucleosis like syndrome
92. Morgagni Stewart Morel syndrome
93. MORM syndrome
94. Morquio syndrome
95. Morvan's syndrome
96. Mouth and genital ulcers with inflamed cartilage syndrome
97. Mowat–Wilson syndrome
98. Moyamoya disease
99. Moynahan syndrome
100. Muckle–Wells syndrome
101. Muenke syndrome
102. Muir–Torre syndrome
 103. Mukamel syndrome
104. Multiple endocrine neoplasia type 1
105. Multiple endocrine neoplasia type 2
106. Multiple evanescent white dot syndrome
107. Multiple hamartoma syndrome
108. Multiple organ dysfunction syndrome
109. Multiple Personality Syndrome
110. Multiple pterygium syndrome
111. Munchausen syndrome
112. Mungan syndrome
113. Musical ear syndrome
114. Mycosis fungoides
115. Myelodysplastic syndrome
116. Myhre syndrome
117. Myoclonic astatic epilepsy
118. Myofascial pain syndrome
119. Myomatous erythrocytosis syndrome
120. Möbius syndrome
121. Müllerian agenesis

N[edit]
1. Nablus mask-like facial syndrome
2. Naegeli–Franceschetti–Jadassohn syndrome
3. Nager acrofacial dysostosis
4. Nail–patella syndrome
5. Nakajo syndrome
6. Nance–Horan syndrome
7. Napoleonist Syndrome
8. Nasodigitoacoustic syndrome
9. Naxos syndrome
10. Nelson's syndrome
11. NEMO deficiency syndrome
12. Neonatal ichthyosis–sclerosing cholangitis syndrome
13. Nephritic syndrome
14. Nephrotic syndrome
15. Nerve compression syndrome
16. Netherton syndrome
17. Neu-Laxova syndrome
18. Neuro-cardio-facial-cutaneous syndromes
19. Neurofibromatosis type I
20. Neuroleptic malignant syndrome
21. Neuroleptic-Induced Deficit Syndrome
22. Neutrophil immunodeficiency syndrome
23. Nevo syndrome
24. Nevoid basal-cell carcinoma syndrome
25. Nezelof syndrome
26. Nice Guy syndrome
27. Nicolaides–Baraitser syndrome
28. Nicolau–Balus syndrome
29. Night eating syndrome
30. Nijmegen breakage syndrome
31. Njølstad syndrome
32. Nodding disease
33. Non-24-hour sleep–wake disorder
 34. Noonan syndrome with multiple lentigines
35. Noonan syndrome
36. Norman–Roberts syndrome
37. Northern epilepsy syndrome
38. Nutcracker syndrome

O[edit]
1. Occipital horn syndrome
2. Ocular ischemic syndrome
3. Oculo-respiratory syndrome
4. Oculoauricular syndrome
5. Oculocerebrocutaneous syndrome
6. Oculocerebrorenal syndrome
7. Oculofaciocardiodental syndrome
8. Oculomucocutaneous syndrome
9. Odontoma dysphagia syndrome
10. Odonto–tricho–ungual–digital–palmar syndrome
11. Ogden Syndrome
12. Ogilvie syndrome
13. Ohtahara syndrome
14. Olfactory reference syndrome
15. Oliver–McFarlane syndrome
16. Omenn syndrome
17. One and a half syndrome
18. Oneiroid syndrome
19. Opitz G/BBB Syndrome
20. Opsoclonus myoclonus syndrome
21. Oral allergy syndrome
22. Oral mite anaphylaxis
23. Oral-facial-digital syndrome
24. Orbital apex syndrome
25. Organic brain syndrome
26. Organic dust toxic syndrome
27. Orofaciodigital syndrome 1
28. Ortner's syndrome
29. Os trigonum syndrome
30. OSLAM syndrome
31. Osler–Weber–Rendu disease
32. Otodental syndrome
33. Otofacial syndrome
34. Ovarian hyperstimulation syndrome
35. Ovarian vein syndrome
36. Overgrowth syndrome
37. Overlap syndrome

P[edit]
1. Pacak–Zhuang syndrome
2. Pacemaker syndrome
3. Painful bruising syndrome
4. Pallister–Hall syndrome
5. Pallister–Killian syndrome
6. Panayiotopoulos syndrome
7. Pancoast tumor
8. Pantothenate kinase-associated neurodegeneration
9. PAPA syndrome
10. Papillon–Lefèvre syndrome
11. Papillorenal syndrome
12. Papular purpuric gloves and socks syndrome
13. Paraneoplastic acrokeratosis
14. Paraneoplastic cerebellar degeneration
15. Paraneoplastic syndrome
16. Parental alienation syndrome
17. Parinaud's oculoglandular syndrome
18. Parinaud's syndrome
19. Paris-Trousseau syndrome
20. Parkes Weber syndrome
21. Parkinson plus syndrome
22. Paroxysmal hand hematoma
23. Paroxysmal tachycardia
24. Parry–Romberg syndrome
25. Parsonage–Turner syndrome
26. Partial androgen insensitivity syndrome
27. Pashayan syndrome
28. Patau syndrome
29. Patellar subluxation syndrome
30. Patellofemoral pain syndrome
31. Patterson syndrome
32. Pearson syndrome
33. Pediatric acute-onset neuropsychiatric syndrome (PANS)
34. Peeling skin syndrome
35. PEHO syndrome
36. Pellegrini–Stieda syndrome
37. Pelvic congestion syndrome
38. Pelvic pain
39. Pemphigus erythematosus
40. Pendred syndrome
41. Penile Artery Shunt Syndrome
42. Pentalogy of Cantrell
43. Periodic fever syndrome
44. Periodic fever, aphthous stomatitis, pharyngitis and adenitis
45. Perisylvian syndrome
46. Perlman syndrome
47. Persistent adrenarche syndrome
48. Persistent genital arousal disorder
49. Persistent Müllerian duct syndrome
50. Pervasive refusal syndrome
51. Peters-plus syndrome
52. Peutz–Jeghers syndrome
53. Pfeiffer syndrome
54. Phantom eye syndrome
55. Phantom limb
56. Phantom vibration syndrome
57. Pickwickian syndrome
58. Pigment dispersion syndrome
59. Pigmented hairy epidermal nevus syndrome
60. Pilotto syndrome
61. Piriformis syndrome
62. Pitt–Hopkins syndrome
63. Plica syndrome
64. Plummer–Vinson syndrome
65. POEMS syndrome
66. Poland syndrome
67. Polar T3 syndrome
68. Polio-like syndrome
69. Polycystic ovary syndrome
70. Popliteal artery entrapment syndrome
71. Popliteal pterygium syndrome
72. Porcine stress syndrome
73. Pork–cat syndrome
74. Post micturition convulsion syndrome
75. Post nasal drip syndrome
76. Post traumatic stress syndrome
77. Post-acute-withdrawal syndrome
78. Post-concussion syndrome
79. Post-Ebola virus syndrome
80. post-embolization syndrome
81. Post-intensive care syndrome
82. Post-maturity syndrome
83. Post-polio syndrome
84. Post-thrombotic syndrome
85. Post-vasectomy pain syndrome
86. Postcardiotomy syndrome
87. Postcholecystectomy syndrome
88. Posterior cerebral artery syndrome
89. Posterior cord syndrome
90. Posterior rami syndrome
91. Posterior reversible encephalopathy syndrome
92. Postgastrectomy syndromes
93. Postorgasmic illness syndrome
94. Postperfusion syndrome
95. Postpericardiotomy syndrome
96. Postural orthostatic tachycardia syndrome
97. Potocki–Lupski syndrome
98. Potocki–Shaffer syndrome
99. Potter sequence
100. Prader–Willi syndrome
101. Pre-excitation syndrome
102. Precordial catch syndrome
103. Premenstrual syndrome
104. Presumed ocular histoplasmosis syndrome
105. Pretzel syndrome
106. Primary pigmented nodular adrenocortical disease
107. Primrose syndrome
108. Progeroid syndromes
109. Progressive supranuclear palsy
110. Pronator teres syndrome
111. Propofol infusion syndrome
112. Proteus syndrome
113. Proteus-like syndrome
114. Prune belly syndrome
115. Pseudo-Cushing's syndrome
116. Pseudodementia
117. Pseudoexfoliation syndrome
118. Psychoorganic syndrome
 119. Puer aeternus
120. Pulmonary leukostasis syndrome
121. Pulmonary-renal syndrome
122. Purple glove syndrome
123. Purple urine bag syndrome

Q[edit]
1. Qazi–Markouizos syndrome
2. Quadrilateral space syndrome
3. Queen bee syndrome

R[edit]
1. Rabbit syndrome
2. Rabson–Mendenhall syndrome
3. Radial tunnel syndrome
4. Rage syndrome
5. Raghib syndrome
6. Raine syndrome
7. Ramos-Arroyo syndrome
8. Ramsay Hunt syndrome type 1
9. Ramsay Hunt syndrome type 2
10. Ramsay Hunt syndrome
11. RAPADILINO syndrome
12. Rape trauma syndrome
13. Rapp–Hodgkin syndrome
14. Rapunzel syndrome
15. Rasmussen syndrome
16. RASopathy
17. Raymond Céstan syndrome
18. Raynaud syndrome
19. Red ear syndrome
20. Red man syndrome (Drug eruption)
21. Refeeding syndrome
22. Reactive arthritis
23. Renal dysplasia-limb defects syndrome
24. Renfield syndrome
25. Renpenning's syndrome
26. Restless legs syndrome
27. Restrictive dermopathy
28. Retinoic acid syndrome
29. Retirement syndrome
30. Rett syndrome
31. Reversible cerebral vasoconstriction syndrome
32. Revesz syndrome
33. Reye syndrome
34. Reynolds syndrome
35. Reynolds' pentad
36. Rh deficiency syndrome
37. Riddoch syndrome
38. Right middle lobe syndrome
39. Riley-Day Syndrome
40. Riley–Day syndrome
 41. Ring chromosome 14 syndrome
42. Ring chromosome 20 syndrome
43. Roberts syndrome
44. Robinow syndrome
45. Rochon-Duvigneaud's syndrome
46. Roemheld syndrome
47. ROHHAD
48. Romano–Ward syndrome
49. Rombo syndrome
50. Rosenthal syndrome
51. Rosenthal–Kloepfer syndrome
52. Ross' syndrome
53. Rosselli–Gulienetti syndrome
54. Rothmund–Thomson syndrome
55. Rotor syndrome
56. Roussy–Lévy syndrome
57. Rubinstein–Taybi syndrome
58. Rud syndrome
59. Rudiger syndrome
60. Rumination syndrome
61. Runting-stunting syndrome in broilers
62. RUQ syndrome
63. Ruzicka Goerz Anton syndrome

S[edit]
1. Saal Bulas syndrome
2. Saal Greenstein syndrome
3. Sabinas brittle hair syndrome
4. Sack–Barabas syndrome
5. SACRAL syndrome
6. Saethre–Chotzen syndrome
7. SAHA syndrome
8. Sakati–Nyhan–Tisdale syndrome
9. Salt water aspiration syndrome
10. Sandifer syndrome
11. Sanfilippo syndrome
12. Sanjad-Sakati syndrome
13. SAPHO syndrome
14. Satoyoshi syndrome
15. Savant syndrome
16. Say syndrome
17. Say–Meyer syndrome
18. Scalp–ear–nipple syndrome
19. SCARF syndrome
20. Scheie syndrome
21. Schimmelpenning syndrome
22. Schinzel–Giedion syndrome
23. Schmitt Gillenwater Kelly syndrome
24. Schnitzler syndrome
25. Schwartz–Jampel syndrome
26. Schöpf–Schulz–Passarge syndrome
27. Scimitar syndrome
28. Scott syndrome
29. Seaver Cassidy syndrome
30. Seckel syndrome
31. Second-impact syndrome
32. Secretan's syndrome
33. Seed dispersal syndrome
34. Senior–Løken syndrome
35. Sensenbrenner syndrome
36. Septo-optic dysplasia
37. Serkal syndrome
38. Serotonin syndrome
39. Serpentine fibula-polycystic kidney syndrome
40. Sertoli cell-only syndrome
41. Serum sickness–like reaction
42. Setleis syndrome
43. Severe acute respiratory syndrome
44. Shaken baby syndrome
45. Shapiro syndrome
46. Sheehan's syndrome
47. Shell nail syndrome
48. Shone's syndrome
49. Short anagen syndrome
50. Short bowel syndrome
51. short limb syndrome
52. Short man syndrome
53. Short QT syndrome
54. Short rib – polydactyly syndrome
55. SHORT syndrome
56. Shoulder hand syndrome (frozen shoulder)
57. Shwachman–Diamond syndrome
58. Shy-Drager syndrome
59. Shy-Drager syndrome
60. Sick building syndrome
61. Sick sinus syndrome
62. Silver–Russell syndrome
63. Simpson–Golabi–Behmel syndrome
64. Singleton Merten syndrome
65. Situs ambiguus
66. Sjögren's syndrome
67. Sjögren–Larsson syndrome
68. Skeeter syndrome
69. Skin fragility syndrome
70. Sliding uncus syndrome
71. Slit ventricle syndrome
72. Sly syndrome
73. Small intestinal bacterial overgrowth
74. Small Penis Syndrome
75. Smith Martin Dodd syndrome
76. Smith–Fineman–Myers syndrome
77. Smith–Lemli–Opitz syndrome
78. Smith–Magenis syndrome
79. Snapping hip syndrome
80. Snapping scapula syndrome
81. Sneddon's syndrome
82. Solipsism syndrome
83. somatostatinoma syndrome
84. Sopite syndrome
85. Sotos syndrome
 86. Space adaptation syndrome
87. Spastic ataxia-corneal dystrophy syndrome
88. Spider lamb syndrome
89. Splenic flexure syndrome
90. Split hand syndrome
91. Spondylo-ocular syndrome
92. SPRED1
93. Staphylococcal scalded skin syndrome
94. STAR syndrome
95. Stauffer syndrome
96. Stendhal syndrome
97. Steroid dementia syndrome
98. Stevens–Johnson syndrome
99. Stewart–Treves syndrome
100. Stickler syndrome
101. Sticky platelet syndrome
102. Stiff person syndrome
103. Stiff skin syndrome
104. Stimmler syndrome
105. Stockholm syndrome
106. Straight back syndrome
107. Stratton Parker syndrome
108. Streff syndrome
109. Strømme syndrome
110. Stuck song syndrome
111. Student syndrome
112. Sturge–Weber syndrome
113. Subclavian steal syndrome
114. Sudden Death Syndrome
115. Sudden infant death syndrome
116. Sudden wealth syndrome
117. Sugarman syndrome
118. Sulfonamide hypersensitivity syndrome
119. Summer penile syndrome
120. Sundowning
121. Superior mesenteric artery syndrome
122. Superior orbital fissure syndrome
123. Superior vena cava syndrome
124. Supernumerary nipples–uropathies–Becker's nevus syndrome
125. Supernumerary phantom limb
126. Survivor syndrome
127. Susac's syndrome
128. Sweet's syndrome
129. Swyer–James syndrome
130. Syndrome of inappropriate antidiuretic hormone secretion
131. Syndrome of subjective doubles
132. Syndrome Without A Name
133. HHH syndrome
134. Systemic inflammatory response syndrome
135. Sézary disease

T[edit]
1. Talk and die syndrome
2. TAN syndrome
3. TAR syndrome
4. Tardive dyskinesia
5. Tardive psychosis
6. tardive syndrome
7. Tarsal tunnel syndrome
8. Taura syndrome
9. Taussig–Bing syndrome
10. Tea and toast syndrome
11. TEMPI syndrome
12. Tension myositis syndrome
13. Terson syndrome
14. Testicular dysgenesis syndrome
15. Tetra-amelia syndrome
16. Tetralogy of Fallot
17. Teunissen–Cremers syndrome
18. Thevenard syndrome
19. Thoracic insufficiency syndrome
20. Thoracic outlet syndrome
21. Thorn's Syndrome
22. Thrombotic thrombocytopenic purpura
23. Thymoma with immunodeficiency
24. Tietz syndrome
25. Tietze syndrome
26. tight lens syndrome
27. Timothy syndrome
28. TNF receptor associated periodic syndrome
29. Tolosa–Hunt syndrome
30. Tonic tensor tympani syndrome
31. Tooth and nail syndrome
32. TORCH syndrome
33. Tourette syndrome
34. Townes–Brocks syndrome
35. Toxic anterior segment syndrome
36. Toxic oil syndrome
37. Toxic shock syndrome
38. Tracheobronchomegaly
39. Transurethral resection of the prostate syndrome
40. Transverse myelitis
41. Treacher Collins syndrome
42. Trench foot
43. Tricho-hepato-enteric syndrome
44. Trichothiodystrophy
45. Tricho–dento–osseous syndrome
46. Tricho–rhino–phalangeal syndrome
47. Trigeminal trophic syndrome
48. Triple X syndrome
49. Triploid syndrome
50. Trisomy 8
51. Tropical splenomegaly syndrome
52. Trotter's syndrome
53. Truman Syndrome
54. Tsukuhara syndrome
55. Tumor lysis syndrome
56. Tumor necrosis factor receptor associated periodic syndrome
57. Turner syndrome
58. Twiddler's syndrome
 59. Twin Anemia-Polycythemia Sequence
60. Twin-to-twin transfusion syndrome

U[edit]
1. Ulnar nerve entrapment
2. Ulnar tunnel syndrome
3. Ulnar–mammary syndrome
4. Ulysses syndrome
5. Uncombable hair syndrome
6. Uner Tan syndrome
7. Upper airway resistance syndrome
8. Upper motor neuron syndrome
9. Upshaw–Schulman syndrome
10. Urban survival syndrome
11. Urban–Rogers–Meyer syndrome
12. Urethral syndrome
13. Urofacial syndrome
14. Urticarial vasculitis
15. Usher syndrome
16. UV-sensitive syndrome

V[edit]
1. VACTERL association
2. Valentino's syndrome
3. Van der Woude syndrome
4. van Gogh syndrome
5. Van Wyk and Grumbach syndrome
6. Vanishing bile duct syndrome
7. Vascular access steal syndrome
8. Vasoplegic syndrome
9. Vestibulocerebellar syndrome
10. Vici syndrome
11. Villaret’s syndrome
12. VIP syndrome
13. VIPoma
14. Visual looming syndrome
15. Vitreous touch syndrome
16. Vogt–Koyanagi–Harada disease
17. Von Hippel–Lindau disease
18. Vulvodynia

W[edit]
1. Waardenburg syndrome
2. WAGR syndrome
3. Walker–Warburg syndrome
4. Wallis–Zieff–Goldblatt syndrome
5. Waltman Walter syndrome
6. Warkany syndrome 1
7. Warmblood Fragile Foal Syndrome
8. Wartenberg's Syndrome
 9. Waterhouse–Friderichsen syndrome
10. Watson syndrome
11. Weaver syndrome
12. Weber's syndrome
13. Weill–Marchesani syndrome
14. Weismann-Netter–Stuhl syndrome
15. Weissenbacher–Zweymüller syndrome
16. Wellens' syndrome
17. Wende–Bauckus syndrome
18. Werner syndrome
19. Wernicke–Korsakoff syndrome
20. West syndrome
21. Westerhof syndrome
22. Wet lung syndrome in newborn
23. WHIM syndrome
24. White dog shaker syndrome
25. White dot syndromes
26. White spot syndrome
27. White-nose syndrome
28. widower syndrome
29. Wiedemann-Steiner syndrome
30. Wiedemann–Rautenstrauch syndrome
31. Wildervanck syndrome
32. Williams syndrome
33. Williams–Campbell syndrome
34. Wilson's temperature syndrome
35. Wilson–Mikity syndrome
36. Wilson–Turner syndrome
37. Winchester syndrome
38. Winter-over syndrome
39. Wiskott–Aldrich syndrome
40. Wissler's syndrome
41. Withdrawal syndrome
42. Withering abalone syndrome
43. Wobbly hedgehog syndrome
44. Wolcott–Rallison syndrome
45. Wolff–Parkinson–White syndrome
46. Wolfram syndrome
47. Wolf–Hirschhorn syndrome
48. Woodhouse–Sakati syndrome
49. Work-related musculoskeletal disorders
50. Worster-Drought syndrome
51. Worth syndrome
52. Wrinkly skin syndrome

X[edit]
1. X-linked lymphoproliferative disease
2. Xeroderma pigmentosum
3. Xia-Gibbs Syndrome
4. XX male syndrome
5. XXXY syndrome
6. XXYY syndrome
7. XY gonadal dysgenesis
8. XYY syndrome
Y[edit]
1. Yellow nail syndrome
2. Yemenite deaf-blind hypopigmentation syndrome
3. Yentl Syndrome
4. Yim–Ebbin syndrome
5. Young's syndrome
6. Young–Madders syndrome
7. Young–Simpson syndrome
8. Yunis–Varon syndrome
9. Yunnan sudden death syndrome

Z[edit]
1. Zadik–Barak–Levin syndrome
2. Zamzam–Sheriff–Phillips syndrome
3. Zechi-Ceide syndrome
4. Zellweger syndrome
5. Zieve's syndrome
6. Zimmermann–Laband syndrome
7. Zollinger–Ellison syndrome
8. Zori–Stalker–Williams syndrome
9. ZTTK syndrome