Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).National Down Syndrome SocietyNational Cholesterol Education Program: The National Cholesterol Education Program is a program managed by the National Heart, Lung and Blood Institute, a division of the National Institutes of Health. Its goal is to reduce increased cardiovascular disease rates due to hypercholesterolemia (elevated cholesterol levels) in the United States of America.Congenital nephrotic syndromeWilliam Lakin Turner: William Lakin Turner (25 February 1867 – 21 October 1936) was an English landscape artist.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..Refractory cytopenia with multilineage dysplasiaCushing reflex: Cushing reflex (also referred to as the vasopressor response, the Cushing effect, the Cushing reaction, the Cushing phenomenon, the Cushing response, or Cushing's Law) is a physiological nervous system response to increased intracranial pressure (ICP) that results in Cushing's triad of increased blood pressure, irregular breathing, and a reduction of the heart rate. It is usually seen in the terminal stages of acute head injury and may indicate imminent brain herniation.Haemodynamic response: In haemodynamics, the body must respond to physical activities, external temperature, and other factors by homeostatically adjusting its blood flow to deliver nutrients such as oxygen and glucose to stressed tissues and allow them to function. Haemodynamic response (HR) allows the rapid delivery of blood to active neuronal tissues.Infertility in polycystic ovary syndrome: Polycystic ovary disease (PCOS) is a hormonal imbalance in women that is thought to be one of the leading causes of female infertility.Palacio JR et,al.Austin B. Williams: Austin Beatty Williams (October 17, 1919 – October 27, 1999) was an American carcinologist, "the acknowledged expert on and leader in studies of the systematics of eastern American decapod crustaceans".}}Thymus transplantationNicholas Horner: Nicholas Horner (died 4 March 1590) was an English Roman Catholic layman, hanged, drawn and quartered because he had relieved and assisted Christopher Bales, a seminary priest. He is a Catholic martyr, beatified in 1987.Prader–Willi syndromeShort QT syndromeGeorges Guillain: Georges Charles Guillain () (3 March 1876 - 29 June 1961) was a French neurologist born in Rouen.Hemolytic-uremic syndromeAbdominal compartment syndrome: (non-traumatic); (traumatic)Tic Talk: Living with Tourette Syndrome: Tic Talk: Living with Tourette Syndrome is a book written by Dylan Peters, a 9-year-old boy with Tourette syndrome (TS). In this personal narrative, Peters gives a timeline of events from his TS diagnosis to when he tells his friends and classmates he has TS.Antiphospholipid syndrome: (ILDS D68.810)Polysomy: Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e.Physical Therapy/Occupational therapy in carpal tunnel syndromeWerner syndromeTheodor Reye: Karl Theodor Reye (born 20 June 1838 in Ritzebüttel, Germany and died 2 July 1919 in Würzburg, Germany) was a German mathematician. He contributed to geometry, particularly projective geometry and synthetic geometry.ROMK: The renal outer medullary potassium channel (ROMK) is an ATP-dependent potassium channel (Kir1.1) that transports potassium out of cells.Acute fatty liver of pregnancyList of genes mutated in cutaneous conditions: A number of gene mutations have been linked to conditions of or affecting the human integumentary system.Infant respiratory distress syndromeHarry Angelman: Harry Angelman (13 August 1915 – 8 August 1996) was a British consultant paediatrician who identified Angelman Syndrome.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Timeline of the SARS outbreak: The following is a timeline of the 2002–04 outbreak of severe acute respiratory syndrome (SARS).Arthur Scott Walters: Arthur Scott Walters is an American neurologist, a professor of neurology at the Vanderbilt University School of Medicine in Nashville, Tennessee, USA.Faculty profile, Vanderbilt School of Medicine, accessed 2012-01-17.Leonine facies: Leonine facies: a face that resembles that of a lion. It is seen in multiple conditions and has been classically described for Lepromatous leprosy as well as Paget's disease of bone.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Paraneoplastic syndrome: A paraneoplastic syndrome is a syndrome (a set of signs and symptoms) that is the consequence of cancer in the body but that, unlike mass effect, is not due to the local presence of cancer cells.Paraneoplastic Syndromes, 2011, Darnell & Posner These phenomena are mediated by humoral factors (by hormones or cytokines) excreted by tumor cells or by an immune response against the tumor.Reactive neutrophilic dermatoses: Reactive neutrophilic dermatoses are a spectrum of conditions mediated by neutrophils, and typically associated with underlying diseases, such as inflammatory bowel disease and hematologic malignancy.James, William; Berger, Timothy; Elston, Dirk (2005).Adult-onset immunodeficiency syndrome: Adult-onset immunodeficiency syndrome is a provisional name for a newly diagnosed immunodeficiency illness. The name is proposed in the first public study to identify the syndrome.Hyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Leukotriene receptor antagonist-associated Churg–Strauss syndromeWilliam Allen Sturge: William Allen Sturge (1850–1919) was an English physician and archaeologist born in Bristol. His first wife was Emily Bovell, one of the 'Edinburgh Seven'.Budd–Chiari syndromePhenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.LorcainideFacies (medical): In medical contexts, a facies is a distinctive facial expression or appearance associated with specific medical conditions.Kallmann syndromeSick sinus syndromeStevens–Johnson syndromeQRISK: QRISK2 (the most recent version of QRISK) is a prediction algorithm for cardiovascular disease (CVD) that uses traditional risk factors (age, systolic blood pressure, smoking status and ratio of total serum cholesterol to high-density lipoprotein cholesterol) together with body mass index, ethnicity, measures of deprivation, family history, chronic kidney disease, rheumatoid arthritis, atrial fibrillation, diabetes mellitus, and antihypertensive treatment.UsherBeckwith–Wiedemann syndromeAlagille syndrome: (EUROCAT Q44.71)Arthur Biedl: Arthur Biedl (4 October 1869 – 26 August 1933) was an Hungarian pathologist born in what today is Comloşu Mic, Romania.CorticorelinPeutz–Jeghers syndromeNephropathia epidemicaCharles LoweEdward Alfred Cockayne: Edward Alfred Cockayne (1880 Sheffield – 1956) was an English physician specializing in pediatrics. He spent most of his medical career at Great Ormond Street Hospital for Sick Children in London.Smith–Lemli–Opitz syndromeFrontonasal dysplasia: Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis, frontonasal malformation or Tessier cleft number 0/14) is a congenital malformation of the midface.Lenyoun EH, Lampert JA, Xipoleas GD, Taub PJ (2011) Salvage of calvarial bone graft using acellular dermal matrix in nasal reconstruction and secondary rhinoplasty for frontonasal dysplasia.Wiskott–Aldrich syndromeShort bowel syndromeVenlafaxineHepatopulmonary syndrome: In medicine, hepatopulmonary syndrome is a syndrome of shortness of breath and hypoxemia (low oxygen levels in the blood of the arteries) caused by vasodilation (broadening of the blood vessels) in the lungs of patients with liver disease. Dyspnea and hypoxemia are worse in the upright position (which is called platypnea and orthodeoxia, respectively).Orofaciodigital syndrome 1: Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.Mandy Sellars: Mandy Sellars (born 20 February 1975 in Lancashire, United Kingdom) is a woman with a rare genetic mutation that has resulted in extraordinary growth in both of her legs.Duane syndromeEuropean Society for Primary Immunodeficiencies: The European Society for Primary Immunodeficiencies (ESID) is a Europe-wide medical association for healthcare professionals and researchers who deal with primary immunodeficiency diseases (PID).Rachel Morris (cyclist): Rachel Morris (born on 25 April 1979) is a British Paralympic handcyclist who won a gold medal at the 2008 Summer Paralympics. She lost both her legs to Complex regional pain syndrome and cycles, in part, to manage the pain.Accessory auricleBaclofenHelene CostelloKlippel–Feil syndromeGross examinationAdson's signPrenatal nutrition: Nutrition and weight management before and during :pregnancy has a profound effect on the development of infants. This is a rather critical time for healthy fetal development as infants rely heavily on maternal stores and nutrient for optimal growth and health outcome later in life.White spot syndrome: White spot syndrome virus is the lone virus (and type species) of the genus Whispovirus (white spot), which is the only genus in the family Nimaviridae. It is responsible for causing white spot syndrome in a wide range of crustacean hosts.Neuro-cardio-facial-cutaneous syndromes: Neuro-cardio-facial-cutaneous-syndromes (NCFC), (also referred to as neuro-craniofacial-cardiac syndromes) is a group of developmental disorders with a genetic ground, affecting the nervous system, circulatory system, (cranio)facial and cutaneous development. These four parts are the common denominator for the syndromes, but are mostly accompanied by disturbances in other parts of the body.Nested case-control study: A nested case control (NCC) study is a variation of a case-control study in which only a subset of controls from the cohort are compared to the incident cases. In a case-cohort study, all incident cases in the cohort are compared to a random subset of participants who do not develop the disease of interest.Aarskog–Scott syndrome