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A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. [ 1] The word derives from the Greek σύνδρομον, meaning "concurrence". [ 2]: 1818 When a syndrome is paired with a definite cause this becomes a disease. [ 3] In some instances, a syndrome ...
Stiff-person syndrome (SPS), also known as stiff-man syndrome, [1] is a rare neurological disorder of unclear cause characterized by progressive muscular rigidity and stiffness. The stiffness primarily affects the truncal muscles and is characterised by spasms , resulting in postural deformities.
Genetic disorder. A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single ...
Kleine–Levin syndrome. Kleine–Levin syndrome ( KLS) is a rare neurological disorder characterized by persistent episodic hypersomnia accompanied by cognitive and behavioral changes. These changes may include disinhibition, sometimes manifested through hypersexuality, hyperphagia or emotional lability, and other symptoms, such as derealization.
Noonan syndrome ( NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [ 1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [ 1]
In Down syndrome, AMKL is typically preceded by transient myeloproliferative disease (TMD), a disorder of blood cell production in which non-cancerous megakaryoblasts with a mutation in the GATA1 gene rapidly divide during the later period of pregnancy. [72] [76] GATA1 mutations combined with trisomy 21 contribute to a predisposition to TAM. [77]
A medical condition is termed heterogeneous, or a heterogeneous disease, if it has several etiologies (root causes); as opposed to homogeneous conditions, which have the same root cause for all patients in a given group. Examples of heterogeneous conditions are hepatitis and diabetes. Heterogeneity is not unusual, as medical conditions are ...
Tourette syndrome is defined only slightly differently by the WHO; [4] [8] in its ICD-11, the International Statistical Classification of Diseases and Related Health Problems, Tourette syndrome is classified as a disease of the nervous system and a neurodevelopmental disorder, [18] [19] and only one motor tic and one or more vocal tics are ...