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Temple Syndrome
Temple syndrome is a rare genetic disorder that is caused by mutations in paternal chromosome 14 or by maternal UPD(14). The signs of this syndrome are oligohydramnios, intrauterine growth restriction, small placenta, low birth weight and length, hypotonia, motor and speech delay, joint laxity, clinodactyly, kyphoscoliosis, precocious puberty, obesity and the facial signs are: trigonocephaly, depressed nasal bridge, broad nose, small jaw, high-arched palate. Symptoms The symptoms of this syndrome are: Very frequent * Hypotonia * Motor delay * Precocious puberty * Small hand * Short foot * Intrauterine Growth Restriction Frequent * Delayed speech * Feeding difficulties * Mild intellectual disability * Obesity * Premature birth * Short stature Occasional * Undescended testis * Polyphagia * Scoliosis * Type II diabetes Very rare * Bifid uvula * Clinodactyly * Frontal bossing * Hydrocephalus * Pointed chin * Recurrent hypoglycaemia Cause There are three main mec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Obesity
Obesity is a medical condition, considered by multiple organizations to be a disease, in which excess Adipose tissue, body fat has accumulated to such an extent that it can potentially have negative effects on health. People are classified as obese when their body mass index (BMI)—a person's weight divided by the square of the person's height—is over ; the range is defined as overweight. Some East Asian countries use lower values to calculate obesity. Obesity is a major cause of disability and is Obesity-associated morbidity, correlated with various diseases and conditions, particularly cardiovascular diseases, type 2 diabetes, obstructive sleep apnea, certain types of cancer, and osteoarthritis. Obesity has individual, socioeconomic, and environmental causes. Some known causes are Western pattern diet, diet, low physical activity, automation, urbanization, quantitative trait locus, genetic susceptibility, medications, mental disorders, Economic policy, economic pol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Diseases And Disorders
Genetic may refer to: *Genetics, in biology, the science of genes, heredity, and the variation of organisms **Genetic, used as an adjective, refers to genes ***Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo ***Genetic mutation, a change in a gene ****Heredity, genes and their mutations being passed from parents to offspring **Genetic recombination, refers to the recombining of alleles resulting in a new molecule of DNA *Genetic relationship (linguistics), in linguistics, a relationship between two languages with a common ancestor language *Genetic algorithm In computer science and operations research, a genetic algorithm (GA) is a metaheuristic inspired by the process of natural selection that belongs to the larger class of evolutionary algorithms (EA). Genetic algorithms are commonly used to g ..., in computer science, a kind of search technique modeled on evolutionary biology See also * Genetic memory (other) {{disam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosomal Abnormalities
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Sometimes chromosomal abnormalities arise in the early stages of an embryo, sperm, or infant. They can be caused by various environmental factors. The implications of chromosomal abnormalities depend on the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thyroxine 5-deiodinase
Thyroxine 5-deiodinase also known as type III iodothyronine deiodinase (EC number 1.21.99.3) is an enzyme that in humans is encoded by the ''DIO3'' gene. This enzyme catalyses the following chemical reaction : 3,3',5'-triiodo-L-thyronine + iodide + A + H+ \rightleftharpoons L-thyroxine + AH2 The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in the pregnant uterus, placenta, fetal and neonatal tissues, suggesting that it plays an essential role in the regulation of thyroid hormone inactivation during embryological development. Discovery The gene was mapped to chromosome 14q32 using fluorescence in situ hybridization (FISH) in 1998. Struc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RTL1
RTL1 (retrotransposon like 1) is a retrotransposon derived protein coding gene. It is also known as PEG11 and is a paternally expressed imprinted gene, part of genomic imprinting. RTL1 plays an important role in the maintenance of fetal capillaries and is expressed in high quantities during late stage of fetal development. The expression of this gene is important for the development of the placenta, the fetus-maternal interface. Because the placenta is the first organ to form during the development of an embryo, problems in its establishment and biological role lead to complications during gestation. This organ maintains the fetus throughout the pregnancy and is therefore sensitive to disruptions. Studies in mice suggest that disruption of the RTL1 concentration, whether increasing or decreasing the amount of this protein coding gene, can lead to serious errors in the conservation of placental fetal capillaries. RTL1 knockout mice have shown obstruction in fetal development along w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DLK1
Protein delta homolog 1, delta like non-canonical Notch ligand 1, fetal antigen 1 or preadipocyte factor 1 is a protein that in humans is encoded by the ''DLK1'' gene. It is expressed as a transmembrane protein, but a soluble form cleaved off by ADAM17 is active in inhibiting adipogenesis, the differentiation of pre-adipocytes into adipocytes. It is a member of the EGF-like family of homeotic proteins. Part of the Dlk1-DIO3 imprinting control region, this gene is one involved in the epigenetic process that causes a subset of genes to be regulated based on their parental origin. Such imprinted genes are required for the formation of the placenta as well as the development of cellular lineages such as those derived from the mesoderm and ectoderm The ectoderm is one of the three primary germ layers formed in early embryonic development. It is the outermost layer, and is superficial to the mesoderm (the middle layer) and endoderm (the innermost layer). It emerges and origina ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division (mitosis/meiosis). There are three forms of nondisjunction: failure of a pair of homologous chromosomes to separate in meiosis I, failure of sister chromatids to separate during meiosis II, and failure of sister chromatids to separate during mitosis. Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy). Calvin Bridges and Thomas Hunt Morgan are credited with discovering nondisjunction in ''Drosophila melanogaster'' sex chromosomes in the spring of 1910, while working in the Zoological Laboratory of Columbia University. Proof of the chromosome theory of heredity emerged from these early studies of chromosome non-disjunction. Types In general, nondisjunction can occur in any form of cell division that involves ordered distribution of chromosomal material. Higher animals have three distinct forms of such cell divisions: Meiosis I and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
High-arched Palate
A high-arched palate (also termed high-vaulted palate) is where the palate is unusually high and narrow. It is usually a congenital developmental feature that results from the failure of the palatal shelves to fuse correctly in development, the same phenomenon that leads to cleft palate. It may occur in isolation or in association with a number of conditions. It may also be an acquired condition caused by chronic thumb-sucking. A high-arched palate may result in a narrowed airway and sleep disordered breathing. Examples of conditions which may be associated with a high-arched palate include: * Allergic rhinitis * Apert syndrome * Crouzon syndrome * Down syndrome * Ehlers-Danlos Syndrome * Friedreich's ataxia * Fragile X syndrome * Incontinentia pigmenti * Marfan syndrome * Sotos syndrome * Treacher Collins syndrome * Upper Airway Resistance Syndrome See also * Minor physical anomalies * Bardet–Biedl syndrome Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Small Jaw
{{disambiguation ...
Small means of insignificant size. Small may also refer to: Science and technology * SMALL, an ALGOL-like programming language * ''Small'' (journal), a nano-science publication * <small>, an HTML element that defines smaller text Arts and entertainment Fictional characters * Small, in the British children's show Big & Small Other uses * Small (surname) * List of people known as the Small * "Small", a song from the album ''The Cosmos Rocks'' by Queen + Paul Rodgers See also * Smal (other) * Smalls (other) Smalls may refer to: * Smalls (surname) * Camp Robert Smalls, a United States Naval training facility * Fort Robert Smalls, a Civil War redoubt * Smalls Creek, a northern tributary of the Parramatta River * Smalls Falls, a waterfall in Maine, USA ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nasal Bridge
The nasal bridge is the upper part of the nose, where the nasal bones and surrounding soft tissues provide structural support. While commonly discussed in human anatomy, nasal bridges exist in various forms across many vertebrates, particularly mammals. The shape, size, and function of the nasal bridge are influenced by evolutionary adaptations, playing a key role in Respiration (physiology), respiration, sense of smell, and thermoregulation. Anatomy Humans In humans, the nasal bridge is the elevated region of the human nose, nose between the eyes. It is primarily formed by the two small, oblong nasal bones, which meet at the midline to form the internasal suture. The nasal bridge extends from the nasal root, where the nose meets the forehead, to the lower edge of the nasal bones. Laterally, it reaches the inner canthi, the medial corners of the eyes, creating a saddle-shaped contour across the upper nose. The height and shape of the nasal bridge vary among individuals and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trigonocephaly
Trigonocephaly is a congenital condition due to premature Synostosis, fusion of the metopic suture (), leading to a triangular forehead. The premature merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur as one component of a syndrome together with other abnormalities, or in isolated form. The term is . Cause Trigonocephaly can either occur in a syndrome or isolated, all by itself. Trigonocephaly is associated with the following syndromes: Bohring-Opitz syndrome, Muenke syndrome, Jacobsen syndrome, Baller–Gerold syndrome and Say–Meyer syndrome. The etiology of trigonocephaly is mostly unknown although there are three main theories. Trigonocephaly is probably a multifactorial congenital condition, but due to limited proof of these theories this cannot safely be concluded. Intrinsic bone malformation The first theory assumes that the origin of pathological synostosis lies within disturbed bone formation early on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
