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Brachydactyly Type E
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 creas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
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] [Amazon] |
Anthropometry
Anthropometry (, ) refers to the measurement of the human individual. An early tool of biological anthropology, physical anthropology, it has been used for identification, for the purposes of understanding human physical variation, in paleoanthropology and in various attempts to correlate physical with racial and psychological traits. Anthropometry involves the systematic measurement of the physical properties of the human body, primarily dimensional descriptors of body size and shape. Since commonly used methods and approaches in analysing living standards were not helpful enough, the anthropometric history became very useful for historians in answering questions that interested them. Today, anthropometry plays an important role in industrial design, clothing design, ergonomics and architecture where statistical data about the distribution of body dimensions in the population are used to optimize products. Changes in lifestyles, nutrition, and ethnic composition of populations ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Ulna
The ulna or ulnar bone (: ulnae or ulnas) is a long bone in the forearm stretching from the elbow to the wrist. It is on the same side of the forearm as the little finger, running parallel to the Radius (bone), radius, the forearm's other long bone. Longer and thinner than the radius, the ulna is considered to be the smaller long bone of the lower arm. The corresponding bone in the Human leg#Structure, lower leg is the fibula. Structure The ulna is a long bone found in the forearm that stretches from the elbow to the wrist, and when in standard anatomical position, is found on the Medial (anatomy), medial side of the forearm. It is broader close to the elbow, and narrows as it approaches the wrist. Close to the elbow, the ulna has a bony Process (anatomy), process, the olecranon process, a hook-like structure that fits into the olecranon fossa of the humerus. This prevents hyperextension and forms a hinge joint with the trochlea of the humerus. There is also a radial notch for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hypoplasia
Hypoplasia (; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ. Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia Stedman's Medical Dictionary. lww.com Hypoplasia is similar to aplasia, but less severe. It is technically ''not'' the opposite of [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Carpal Bone
The carpal bones are the eight small bones that make up the wrist (carpus) that connects the hand to the forearm. The terms "carpus" and "carpal" are derived from the Latin carpus and the Greek καρπός (karpós), meaning "wrist". In human anatomy, the main role of the carpal bones is to articulate with the radial and ulnar heads to form a highly mobile condyloid joint (i.e. wrist joint),Kingston 2000, pp 126-127 to provide attachments for thenar and hypothenar muscles, and to form part of the rigid carpal tunnel which allows the median nerve and tendons of the anterior forearm muscles to be transmitted to the hand and fingers. In tetrapods, the carpus is the sole cluster of bones in the wrist between the radius and ulna and the metacarpus. The bones of the carpus do not belong to individual fingers (or toes in quadrupeds), whereas those of the metacarpus do. The corresponding part of the foot is the tarsus. The carpal bones allow the wrist to move and rotate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Phalanx Bones
The phalanges (: phalanx ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bones. Structure The phalanges are the bones that make up the fingers of the hand and the toes of the foot. There are 56 phalanges in the human body, with fourteen on each hand and foot. Three phalanges are present on each finger and toe, with the exception of the thumb and big toe, which possess only two. The middle and far phalanges of the fifth toes are often fused together (symphalangism). The phalanges of the hand are commonly known as the finger bones. The phalanges of the foot differ from the hand in that they are often shorter and more compressed, especially in the proximal phalanges, those closest to the torso. A phalanx is named according to whether it is proximal, middle, or distal and its associated finger or toe. The proximal phalang ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
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] [Amazon] |
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] [Amazon] |
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] [Amazon] |
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] [Amazon] |
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] [Amazon] |
