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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] |
BDA1B
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, 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 fingertip to the principal crea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IHH (protein)
Indian hedgehog homolog (Drosophila), also known as IHH, is a protein which in humans is encoded by the ''IHH'' gene. This cell signaling protein is in the hedgehog signaling pathway. The several mammalian variants of the ''Drosophila'' hedgehog gene ( which was the first named) have been named after the various species of hedgehog; the Indian hedgehog is honored by this one. The gene is not specific to Indian hedgehogs. Function The Indian hedgehog protein is one of three proteins in the mammalian hedgehog family, the others being desert hedgehog (DHH) and sonic hedgehog (SHH). It is involved in chondrocyte differentiation, proliferation and maturation especially during endochondral ossification. It regulates its effects by feedback control of parathyroid hormone-related peptide (PTHrP Parathyroid hormone-related protein (PTHrP) is a proteinaceous hormone and a member of the parathyroid hormone family secreted by mesenchymal stem cells. It is occasionally secreted by can ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brachydactyly Type D
Brachydactyly type D, also known as murderer's thumb, stubbed thumb, spoon thumb, or short thumb, is a genetic trait recognised by a thumb being relatively short and round with an accompanying wider Nail (anatomy), nail bed. The distal phalanx of such thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, shortness of digits (brachydactyly), affecting approximately 2% of the population. It is associated with the ''HOXD13'' gene, located on chromosome 2q31.1. Signs and symptoms Brachydactyly type D is a skeletal condition that exhibits a “partial fusion or premature closing of the epiphysis with the distal phalanx of the thumb,” according to Goodman ''et alia'' (1965). J.K. Breitenbecher (1923) found that distal phalanges of short thumbs were one-half the length of full-length thumbs, while R.M. Stecher (1957) claimed that it is approximately two-thirds. The condition may either be unilateral (affecting one thumb) or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmelia
Dysmelia (from the Greek (), "bad" + (), "limb" + English suffix -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development. Types Dysmelia can refer to * missing ( aplasia) limbs: amelia (including tetraamelia), oligodactyly, congenital amputation e.g. tibial or radial aplasia * malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot * extra limbs: polymelia, polydactyly, polysyndactyly * others: hemimelia, symbrachydactyly Occurrence rate Birth defects involving limbs occur in 0.69 per 1000. Causes Dysmelia can be caused by * Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms (syndromes) * external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome * teratogenic drugs (e.g. thalidomide, which cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brachydactyly-mesomelia-intellectual Disability-heart Defects Syndrome
Heart-hand syndromes are a group of rare diseases that manifest with both heart and limb deformities. , known heart-hand syndromes include Holt–Oram syndrome, Berk–Tabatznik syndrome, brachydactyly-long thumb syndrome, patent ductus arteriosus-bicuspid aortic valve syndrome, heart hand syndrome, Slovenian type and Heart-hand syndrome, Spanish type. Types Heart-hand syndrome type 1 Heart-hand syndrome type 1 is more commonly known as Holt–Oram syndrome. Is the most prevalent form of heart-hand syndrome. It is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block. Heart-hand syndrome type 2 Heart-hand syndrome type 2 is also known as Berk–Tabatznik syndrome. Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Finger
A finger is a prominent digit (anatomy), digit on the forelimbs of most tetrapod vertebrate animals, especially those with prehensile extremities (i.e. hands) such as humans and other primates. Most tetrapods have five digits (dactyly, pentadactyly),#Cha1998, Chambers 1998 p. 603#OxfIll, Oxford Illustrated pp. 311, 380 and short digits (i.e. significantly shorter than the metacarpal/metatarsals) are typically referred to as toes, while those that are notably elongated are called fingers. In humans, the fingers are flexibly joint, articulated and opposable, serving as an important organ of somatosensory, tactile sensation and fine motor skill, fine movements, which are crucial to the dexterity of the hands and the ability to grasp and object manipulation, manipulate objects. Land vertebrate fingers As terrestrial vertebrates were evolution, evolved from lobe-finned fish, their forelimbs are phylogeny, phylogenetically equivalent to the pectoral fins of fish. Within the taxon, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Syndrome
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] |
Radiography
Radiography is an imaging technology, imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical ("diagnostic" radiography and "therapeutic radiography") and industrial radiography. Similar techniques are used in airport security, (where "body scanners" generally use backscatter X-ray). To create an image in conventional radiography, a beam of X-rays is produced by an X-ray generator and it is projected towards the object. A certain amount of the X-rays or other radiation are absorbed by the object, dependent on the object's density and structural composition. The X-rays that pass through the object are captured behind the object by a X-ray detector, detector (either photographic film or a digital detector). The generation of flat two-dimensional images by this technique is called Projection radiography, projectional radiography. In computed tomography (C ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Locus (genetics)
In genetics, a locus (: loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of Human genome#Coding sequences (protein-coding genes), protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygote, homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygote, heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Digit (anatomy)
A digit is one of several most distal parts of a limb, such as fingers or toes, present in many vertebrates. Names Some languages have different names for hand and foot digits (English: respectively "finger" and " toe", German: "Finger" and "Zeh", French: "doigt" and "orteil"). In other languages, e.g. Arabic, Russian, Polish, Spanish, Portuguese, Italian, Czech, Tagalog, Turkish, Bulgarian, and Persian, there are no specific one-word names for fingers and toes; these are called "digit of the hand" or "digit of the foot" instead. In Japanese, yubi (指) can mean either, depending on context. Human digits Humans normally have five digits on each extremity. Each digit is formed by several bones called phalanges, surrounded by soft tissue. Human fingers normally have a nail at the distal phalanx. The phenomenon of polydactyly occurs when extra digits are present; fewer digits than normal are also possible, for instance in ectrodactyly. Whether such a mutation can ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Imaging
Medical imaging is the technique and process of imaging the interior of a body for clinical analysis and medical intervention, as well as visual representation of the function of some organs or tissues (physiology). Medical imaging seeks to reveal internal structures hidden by the skin and bones, as well as to diagnose and treat disease. Medical imaging also establishes a database of normal anatomy and physiology to make it possible to identify abnormalities. Although imaging of removed organ (anatomy), organs and Tissue (biology), tissues can be performed for medical reasons, such procedures are usually considered part of pathology instead of medical imaging. Measurement and recording techniques that are not primarily designed to produce images, such as electroencephalography (EEG), magnetoencephalography (MEG), electrocardiography (ECG), and others, represent other technologies that produce data susceptible to representation as a parameter graph versus time or maps that contain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
