H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID, is a rare genetic condition caused by mutations in the SLC29A3 gene which...

Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder...

Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe...

Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the...

Sjögren syndrome or Sjögren's syndrome (SjS, SS) is a long-term autoimmune disease that primarily affects the body's exocrine glands, particularly the...

syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome,...

Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems...

Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal...

Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include...

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...

type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. Some cases result from a new variation occurring...

Impostor syndrome, also known as impostor phenomenon or impostorism, is a psychological experience of intellectual and professional fraudulence. One source...

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...

Metabolic syndrome is a clustering of at least three of the following five medical conditions: abdominal obesity, high blood pressure, high blood sugar...

Eagle syndrome (also termed stylohyoid syndrome, styloid syndrome, stylalgia, styloid-stylohyoid syndrome, or styloid–carotid artery syndrome) is an uncommon...

Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority. Many people never have...

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...

Klüver–Bucy syndrome is a syndrome resulting from lesions of the medial temporal lobe, particularly Brodmann area 38, causing compulsive eating, hypersexuality...

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...

Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol. Signs and symptoms may include...

Asperger syndrome (AS), also known as Asperger's syndrome or Asperger's, is a neurodevelopmental condition characterized by significant difficulties in...

Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The...

(hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely...

Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It...

autonomic syndrome, hostility syndrome, manic syndrome, apathy syndrome. Münchausen syndrome, Ganser syndrome, neuroleptic-induced deficit syndrome, olfactory...

Sandifer syndrome (or Sandifer's syndrome) is an eponymous paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological...

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...

Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. It affects...

Tietze syndrome is a benign inflammation of one or more of the costal cartilages. It was first described in 1921 by German surgeon Alexander Tietze and...

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...