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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). Causes * exogenous causes ** exogenous toxic ( teratogenetic agents) ** ionizing radiations ** fetal infections ( maternofetal infections) * genetic causes (or intrinsic causes) (genetic malformative diseases) ** chromosomal anomalies (chromosomal malformative diseases) ** numerical chromosomal anomalies (e.g. trisomy 13, trisomy 18, trisomy 21) ** structural chromosomal anomalies *** microdeletions (microdeletion syndromes) *** chromosomal rearrangements * gene mutations (monogenic malformative diseases) ** Kabuki mask syndrome: MLL2 ** Joubert syndrome, Meckel syndrome and related syndromes: TMEM216 ** cleft lip with and without cleft palate: MAFB and ABCA4 ** Schinzel–Giedion syndrome: SETBP1 ** Fanconi anemia and related disorders: RAD51C ** Noonan syndrome: NRAS ** ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Anomaly
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diagno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Meckel Syndrome
Meckel may refer to: People German anatomist/physician family Meckel * Johann Friedrich Meckel, the Younger (1781–1833), German anatomist * Johann Friedrich Meckel, the Elder (1724–1774) German anatomist, grandfather of the Younger * Philipp Friedrich Theodor Meckel (1755–1803) German anatomist, father of Johann Friedrich the Younger * August Albrecht Meckel (1789–1829) German physician. brother of Johann Friedrich the Younger * Johann Heinrich Meckel (1821–1856) German anatomist, son of Johann Friedrich the Younger Others * Christoph Meckel (1935–2020) German author and graphic artist * Jakob Meckel (1842–1905) Prussian general * Markus Meckel (born 1952) German theologian and politician * Miriam Meckel (born 1967) German journalist and academic Places * Meckel, Germany See also * {{disambiguation, surname German-language surnames ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
March Of Dimes
March of Dimes is a United States nonprofit organization that works to improve the health of mothers and babies. The organization was founded by US President Franklin D. Roosevelt in 1938, as the National Foundation for Infantile Paralysis, to combat polio. The name "March of Dimes" was coined by Eddie Cantor as a pun on the newsreel series ''The March of Time''. After funding Jonas Salk's polio vaccine, the organization expanded its focus to the prevention of birth defects and infant mortality. In 2005, as preterm birth emerged as the leading cause of death for children worldwide, research and prevention of premature birth became the organization's primary focus. Organization March of Dimes improves the health of mothers and babies through five programming areas: medical research, education of pregnant women, community programs, government advocacy, and support of pregnant women and mothers. The organization provides women and families with educational resources on baby heal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Anomalies
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diagnos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Congenital Disorders
A list is a set of discrete items of information collected and set forth in some format for utility, entertainment, or other purposes. A list may be memorialized in any number of ways, including existing only in the mind of the list-maker, but lists are frequently written down on paper, or maintained electronically. Lists are "most frequently a tool", and "one does not ''read'' but only ''uses'' a list: one looks up the relevant information in it, but usually does not need to deal with it as a whole".Lucie Doležalová,The Potential and Limitations of Studying Lists, in Lucie Doležalová, ed., ''The Charm of a List: From the Sumerians to Computerised Data Processing'' (2009). Purpose It has been observed that, with a few exceptions, "the scholarship on lists remains fragmented". David Wallechinsky, a co-author of ''The Book of Lists'', described the attraction of lists as being "because we live in an era of overstimulation, especially in terms of information, and lists help us ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Abnormality
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diagn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Smith–Lemli–Opitz Syndrome
Smith–Lemli–Opitz syndrome is an inborn error of metabolism, inborn error of cholesterol synthesis. It is an autosome, autosomal recessive (genetics), recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations. Signs and symptoms SLOS can present itself differently in different cases, depending on the severity of the mutation and other factors. Originally, SLOS patients were classified into two categories (classic and severe) based on physical and mental characteristics, alongside other clinical features. Since the discovery of the specific biochemical defect responsible for SLOS, patients are given a severity score based on their levels of cerebral, ocular, oral, and genital defects. It is then used to classify patients as having mild, classical, or severe SLOS. Physical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inherited Metabolic Disorder
Inherit or Inherited may refer to: * Inheritance, passing on of property after someone's death * Heredity, passing of genetic traits to offspring * Inheritance (object-oriented programming) In object-oriented programming, inheritance is the mechanism of basing an Object (computer science), object or Class (computer programming), class upon another object (Prototype-based programming, prototype-based inheritance) or class (Class-base ..., way to compartmentalize and re-use computer code * ''Inherit'' (album), 2008 work by the group Free Kitten * '' Inherited (script)'', name for dependent script characters, like diacritics (ISO code ) {{disambig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anonychia
Anonychia is the failure to form fingernails or toenails. It is an anomaly which may be the result of a congenital ectodermal defect, ichthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud phenomenon, lichen planus, epidermolysis bullosa, or severe exfoliative diseases. Cause This is rare and is usually due to mutations in the R-spondin 4 ( RSPO4) gene which is located on the short arm of chromosome 20 (20p13).Khan TN, Klar J, Nawaz S, Jameel M, Tariq M, Malik NA, Baig SM, Dahl N (2012) Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I). BMC Med Genet 13(1):120 See also * List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ... Reference ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brachydactyly
Brachydactyly () is a medical term denoting the presence of abnormally short digits (fingers or toes) at birth. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease due to the association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly. Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian ..., the most com ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Noonan Syndrome
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. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence is often normal. Complications of NS can include leukemia. Some of NS' symptoms are shared with Watson syndrome, a related genetic condition. A number of genetic mutations can result in Noonan syndrome. The condition may be inherited as an autosomal dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves sustained activation of the RAS/MAPK cell signaling pathway. The diagnosis may be suspected based on symptoms, medical imaging, and blood test ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fanconi Anemia
Fanconi anemia (FA) is a rare, autosomal recessive genetic disease characterized by aplastic anemia, congenital defects, endocrinological abnormalities, and an increased incidence of developing cancer. The study of Fanconi anemia has improved scientific understanding of the mechanisms of normal bone marrow function and the development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and liver cancer. 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. 60% of FA is FANC-A, 16q24.3, which has later onset bone marrow failure. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homolog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
