H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID, is a rare genetic condition caused by mutations in the SLC29A3 gene which...
4 KB (370 words) - 12:45, 14 August 2023
Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder...
148 KB (14,803 words) - 02:05, 25 September 2024
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe...
38 KB (4,094 words) - 12:28, 20 September 2024
Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the...
17 KB (2,086 words) - 05:40, 1 September 2024
Sjögren syndrome or Sjögren's syndrome (SjS, SS) is a long-term autoimmune disease that primarily affects the body's exocrine glands, particularly the...
86 KB (9,160 words) - 21:18, 26 September 2024
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems...
41 KB (4,206 words) - 02:06, 14 September 2024
syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome,...
34 KB (3,506 words) - 19:56, 23 August 2024
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include...
52 KB (5,772 words) - 04:08, 9 August 2024
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal...
44 KB (5,146 words) - 12:01, 25 September 2024
Cotard's syndrome, also known as Cotard's delusion or walking corpse syndrome, is a rare mental disorder in which the affected person holds the delusional...
21 KB (2,358 words) - 17:17, 24 September 2024
type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. Some cases result from a new variation occurring...
108 KB (11,172 words) - 13:36, 1 October 2024
Metabolic syndrome is a clustering of at least three of the following five medical conditions: abdominal obesity, high blood pressure, high blood sugar...
60 KB (6,850 words) - 17:24, 18 September 2024
Sandifer syndrome (or Sandifer's syndrome) is an eponymous paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological...
7 KB (528 words) - 20:45, 28 April 2024
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome...
13 KB (1,304 words) - 03:24, 25 September 2024
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which the patient's cells have only one X chromosome or are partially missing...
77 KB (9,067 words) - 03:01, 12 September 2024
Eagle syndrome (also termed stylohyoid syndrome, styloid syndrome, stylalgia, styloid-stylohyoid syndrome, or styloid–carotid artery syndrome) is an uncommon...
13 KB (1,323 words) - 14:08, 17 September 2024
Impostor syndrome, also known as impostor phenomenon or impostorism, is a psychological experience of intellectual and professional fraudulence. One source...
22 KB (2,568 words) - 01:03, 27 August 2024
autonomic syndrome, hostility syndrome, manic syndrome, apathy syndrome. Münchausen syndrome, Ganser syndrome, neuroleptic-induced deficit syndrome, olfactory...
16 KB (1,759 words) - 21:13, 25 May 2024
Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority. Many people never have...
36 KB (3,719 words) - 12:42, 16 July 2024
(hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely...
16 KB (1,686 words) - 09:14, 26 September 2024
Klüver–Bucy syndrome is a syndrome resulting from lesions of the medial temporal lobe, particularly Brodmann area 38, causing compulsive eating, hypersexuality...
17 KB (1,764 words) - 10:26, 6 September 2024
Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol. Signs and symptoms may include...
49 KB (5,009 words) - 01:29, 26 September 2024
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The...
12 KB (1,312 words) - 09:12, 10 September 2024
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It...
14 KB (1,378 words) - 09:58, 25 July 2024
Silver–Russell syndrome, also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver...
15 KB (1,650 words) - 16:32, 20 August 2024
Hereditary nonpolyposis colorectal cancer (redirect from Lynch syndrome)
predisposition to colon cancer. HNPCC includes (and was once synonymous with) Lynch syndrome, an autosomal dominant genetic condition that is associated with a high...
48 KB (4,986 words) - 14:42, 18 September 2024
Locked-in syndrome (LIS), also known as pseudocoma, is a condition in which a patient is aware but cannot move or communicate verbally due to complete...
15 KB (1,483 words) - 04:47, 13 September 2024
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. It affects...
33 KB (3,370 words) - 16:44, 31 July 2024
Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. There may also be short...
22 KB (2,232 words) - 20:13, 27 September 2024
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with...
73 KB (6,848 words) - 16:42, 16 September 2024