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Polydactyl
Polydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). Signs and symptoms In humans/animals this condition can present itself on one or both hands or feet. The extra digit is usually a small piece of soft tissue that can be removed. Occasionally it contains bone without joints; rarely it may be a complete functioning digit. The extra digit is most common on the ulnar (little finger) side of the hand, less common on the radial ( thumb) side, and very rarely within the middle three digits. These are respectively known as postaxial (little finger), preaxial (thumb), and central (ring, middle, index fingers) polydactyly. The extra digit is most commonly an abnormal fork in an existing digit, or it may rarely originate at the wrist as a normal digit does. The incidence of congenital deformities in newborns is approximately 2% ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polydactyly
Polydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). Signs and symptoms In humans/animals this condition can present itself on one or both hands or feet. The extra digit is usually a small piece of soft tissue that can be removed. Occasionally it contains bone without joints; rarely it may be a complete functioning digit. The extra digit is most common on the ulnar (little finger) side of the hand, less common on the radial (thumb) side, and very rarely within the middle three digits. These are respectively known as postaxial (little finger), preaxial (thumb), and central (ring, middle, index fingers) polydactyly. The extra digit is most commonly an abnormal fork in an existing digit, or it may rarely originate at the wrist as a normal digit does. The incidence of congenital deformities in newborns is approximately 2%, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polydactyly Postaxial
Polydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). Signs and symptoms In humans/animals this condition can present itself on one or both hands or feet. The extra digit is usually a small piece of soft tissue that can be removed. Occasionally it contains bone without joints; rarely it may be a complete functioning digit. The extra digit is most common on the ulnar (little finger) side of the hand, less common on the radial (thumb) side, and very rarely within the middle three digits. These are respectively known as postaxial (little finger), preaxial (thumb), and central (ring, middle, index fingers) polydactyly. The extra digit is most commonly an abnormal fork in an existing digit, or it may rarely originate at the wrist as a normal digit does. The incidence of congenital deformities in newborns is approximately 2%, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polydactyly Preaxial
Polydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). Signs and symptoms In humans/animals this condition can present itself on one or both hands or feet. The extra digit is usually a small piece of soft tissue that can be removed. Occasionally it contains bone without joints; rarely it may be a complete functioning digit. The extra digit is most common on the ulnar (little finger) side of the hand, less common on the radial (thumb) side, and very rarely within the middle three digits. These are respectively known as postaxial (little finger), preaxial (thumb), and central (ring, middle, index fingers) polydactyly. The extra digit is most commonly an abnormal fork in an existing digit, or it may rarely originate at the wrist as a normal digit does. The incidence of congenital deformities in newborns is approximately 2%, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Supernumerary Body Part
Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan. Body parts may be easily visible or hidden away, such as internal organs. Many additional body parts form by the same process as conjoined twins: the zygote begins to split but fails to completely separate. This condition may also be a symptom of repeated occurrences of continuous inbreeding in a genetic line. Specific types of occurrence Specific types of additional body parts include: *Accessory breast – one or more additional breastsOnline Mendelian Inheritance in Man. Nipples, Supernumerary. Accessed 10 July 2006. * Accessory spleen – one or more additional spleens *Cervical rib – an additional rib *Diphallia – having two penes/penises *Hermaphroditism – having both male and female sex organs *Hyperdontia – additional teeth * Pelvic digit – a bony growth in the soft tissue of the pelvic region *Polycephaly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics 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 specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Notch Signaling Pathway
The Notch signaling pathway is a highly Conserved sequence, conserved cell signaling system present in most animals. Mammals possess four different Notch proteins, notch receptors, referred to as NOTCH1, NOTCH2, Notch 3, NOTCH3, and NOTCH4. The notch receptor is a single-pass Cell surface receptor, transmembrane receptor protein. It is a hetero-oligomer composed of a large extracellular portion, which associates in a calcium-dependent, non-covalent interaction with a smaller piece of the notch protein composed of a short extracellular region, a single transmembrane-pass, and a small intracellular region. Notch signaling promotes proliferative signaling during neurogenesis, and its activity is inhibited by NUMB (gene), Numb to promote neural differentiation. It plays a major role in the regulation of embryonic development. Notch signaling is dysregulated in many cancers, and faulty notch signaling is implicated in many diseases, including T-cell acute lymphoblastic leukemia (Pre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cis-regulatory Element
''Cis''-regulatory elements (CREs) or ''Cis''-regulatory modules (CRMs) are regions of non-coding DNA which regulate the transcription of neighboring genes. CREs are vital components of genetic regulatory networks, which in turn control morphogenesis, the development of anatomy, and other aspects of embryonic development, studied in evolutionary developmental biology. CREs are found in the vicinity of the genes that they regulate. CREs typically regulate gene transcription by binding to transcription factors. A single transcription factor may bind to many CREs, and hence control the expression of many genes ( pleiotropy). The Latin prefix ''cis'' means "on this side", i.e. on the same molecule of DNA as the gene(s) to be transcribed. CRMs are stretches of DNA, usually 100–1000 DNA base pairs in length, where a number of transcription factors can bind and regulate expression of nearby genes and regulate their transcription rates. They are labeled as ''cis'' because they are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Synpolydactyly
Synpolydactyly is a joint presentation of syndactyly (fusion of digits) and polydactyly Polydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). Signs and symptoms In human ... (production of supernumerary digits). This is often a result of a mutation in the HOX D13 gene. __TOC__ Types References External links Congenital disorders of musculoskeletal system Transcription factor deficiencies {{genetic-disorder-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wnt Signaling Pathway
The Wnt signaling pathways are a group of signal transduction pathways which begin with proteins that pass signals into a cell through cell surface receptors. The name Wnt is a portmanteau created from the names Wingless and Int-1. Wnt signaling pathways use either nearby cell-cell communication (paracrine) or same-cell communication (autocrine). They are highly evolutionarily conserved in animals, which means they are similar across animal species from fruit flies to humans. Three Wnt signaling pathways have been characterized: the canonical Wnt pathway, the noncanonical planar cell polarity pathway, and the noncanonical Wnt/calcium pathway. All three pathways are activated by the binding of a Wnt-protein ligand to a Frizzled family receptor, which passes the biological signal to the Dishevelled protein inside the cell. The canonical Wnt pathway leads to regulation of gene transcription, and is thought to be negatively regulated in part by the SPATS1 gene. The noncanonical plana ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndrome
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. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Zone Of Polarizing Activity
The zone of polarizing activity (ZPA) is an area of mesenchyme that contains signals which instruct the developing limb bud to form along the anterior/posterior axis. Limb bud is undifferentiated mesenchyme enclosed by an ectoderm covering. Eventually, the limb bud develops into bones, tendons, muscles and joints. Limb bud development relies not only on the ZPA, but also many different genes, signals, and a unique region of ectoderm called the apical ectodermal ridge (AER). Research by Saunders and Gasseling in 1948 identified the AER and its subsequent involvement in proximal distal outgrowth. Twenty years later, the same group did transplantation studies in chick limb bud and identified the ZPA. It wasn't until 1993 that Todt and Fallon showed that the AER and ZPA are dependent on each other. Patterning Patterning along the limb bud requires signals from many sources. Specifically, proteins called transcription factors (TF) help control the rate at which a gene is transcrib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder
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 vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
