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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 ** general ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Anomaly
A birth defect, also known as a congenital disorder, 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 are believed to involve multiple factors. Birth defects may be visib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cleft Lip
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders. Cleft lip and palate are the result of tissues of the face not joining properly during development. As such, they are a type of birth defect. The cause is unknown in most cases. Risk factors include smoking during pregnancy, diabetes, obesity, an older mother, and certain medications (such as some used to treat seizures). Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. A cleft lip or palate can be successfully treated with surgery. ... [...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 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. 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 health, pregnancy, preconception and new motherhood, as well a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Anomalies
A birth defect, also known as a congenital disorder, 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 are believed to involve multiple factors. Birth defects may be vis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Congenital Disorders
List of congenital disorders {{TOC right Numerical * 5p syndrome - see Cri du chat syndrome A * Albinism * Amelia and hemimelia * Amniotic band syndrome * Anencephaly * Angelman syndrome * Aposthia * Arnold–Chiari malformation B * Bannayan–Zonana syndrome * Bardet–Biedl syndrome * Barth syndrome * Basal-cell nevus syndrome * Beckwith–Wiedemann syndrome * Benjamin syndrome * Bladder exstrophy * Bloom syndrome * Brachydactyly * Breathing Genitalia C * Cat eye syndrome * Caudal regression syndrome * Sotos syndrome Cerebral Gigantism * CHARGE syndrome * Chromosome 16 abnormalities * Chromosome 18 abnormalities * Chromosome 20 abnormalities * Chromosome 22 abnormalities * Cleft lip/palate * Cleidocranial dysostosis * Club foot * Congenital adrenal hyperplasia (CAH) * Congenital central hypoventilation syndrome * Congenital diaphragmatic hernia (CDH) * Congenital Disorder of Glycosylation (CDG) * Congenital hyperinsulinism * Congenital insensitivity to pain wi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Malformations, Deformations And Chromosomal Abnormalities
A birth defect, also known as a congenital disorder, 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 are believed to involve multiple factors. Birth defects may be vis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Abnormality
A birth defect, also known as a congenital disorder, 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 are believed to involve multiple factors. Birth defects may be visib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Smith–Lemli–Opitz Syndrome
Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. It is an autosomal 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 characteristics The most common facial features of SLOS in ... [...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 or class upon another object ( prototype-based inheritance) or class ( class-based inheritance), retaining similar implementation. Also defined as deriving new classe ..., 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 absence of fingernails or toenails, 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.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Congenital form 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 Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 66 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent of the total DNA in cells. Chromosome 20 was fully sequenced i ... (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 ev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brachydactyly
Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "short finger". 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's syndrome and the link between carpenter's syndrome and brachydactyly Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics, the most commonly used index of digit length is the dimensionless ratio of the length of the third (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the finger ... [...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 in the syndrome is often normal. Complications of NS can include leukemia. A number of genetic mutations can result in Noonan syndrome. The condition may be inherited from a person's parents as an autosomal dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves overactivation within the RAS/MAPK cell signaling pathway. The diagnosis may be suspected based on symptoms, medical imaging, and blood tests. Confirmation may be achieved with genetic tes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
