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Ulbright–Hodes Syndrome
Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder. It has been described in three infants, all of whom died shortly after birth. Presentation RL syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion (joining of radius and humerus), rib abnormalities, anomalies of the external genitalia and potter-like facies among many others. Genetics RL syndrome is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry Carry or carrying may refer to: People *Carry (name) Finance * Carried interest (or carry), the share of profits in an investment fund paid to th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having 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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomple ... [...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 b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renal Dysplasia
Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney during fetal development. The kidney consists of irregular cysts of varying sizes. Multicystic dysplastic kidney is a common type of renal cystic disease, and it is a cause of an abdominal mass in infants. Signs and symptoms When a diagnosis of multicystic kidney is made in utero by ultrasound, the disease is found to be bilateral in many cases. Those with bilateral disease often have other severe deformities or polysystemic malformation syndromes. In bilateral cases, the newborn has the classic characteristic of Potter's syndrome. The bilateral condition is incompatible with survival, as the contralateral system frequently is abnormal as well. Contralateral ureteropelvic junction obstruction is found in 3% to 12% of infants with multicystic kidney and contralateral vesicoureteral reflux is seen even more often, in 18% to 43% of infants. Because the high incidence of reflux ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Retardation
Delayed milestone, also called developmental delays, is used to describe the condition where a child does not reach one of these stages at the expected age. However, in most cases, a wide variety of ages can be considered normal, and not a cause for medical concern. Milestones are often measured using percentiles, and for many milestones a value between the 5th and 95th percentile does not require intervention, though values towards the edges of that range can be associated with other medical conditions. It is not possible to treat. It has been suggested that measurement of posture sway may be an early indicator. References External links - Information for parents on early childhood development and developmental disabilities "Recognizing Developmental Delays in Children" WebMD WebMD is an American corporation known primarily as an online publisher of news and information pertaining to human health and well-being. The site includes information pertaining to drugs. It is on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phocomelia
Phocomelia is a condition that involves malformations of human arms and legs. Although many factors can cause phocomelia, the prominent roots come from the use of the drug thalidomide scandal, thalidomide and from genes, genetic inheritance. Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. Although operations may improve some abnormalities, many are not surgically treatable due to the lack of nerves and other related structures. The term is from Ancient Greek φώκη ''phōkē'', "seal (animal)" + ''-o-'' interfix + μέλος ''melos'', "limb" + English language, English suffix ''-ia''). Phocomelia is an extremely rare congenital disorder involving malformation of the limbs (dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in 1836. Signs and symptoms The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mesomelia
Mesomelia refers to conditions in which the middle parts of limbs are disproportionately short. When applied to skeletal dysplasias, mesomelic dwarfism describes generalised shortening of the forearms and lower legs. This is in contrast to rhizomelic dwarfism in which the upper portions of limbs are short such as in achondroplasia. Forms of mesomelic dwarfism currently described include: * Langer mesomelic dysplasia * Ellis–van Creveld syndrome * Robinow syndrome * Léri–Weill dyschondrosteosis Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs ( mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity). Causes It ... References Growth disorders {{congenital-malformation-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radius
In classical geometry, a radius ( : radii) of a circle or sphere is any of the line segments from its center to its perimeter, and in more modern usage, it is also their length. The name comes from the latin ''radius'', meaning ray but also the spoke of a chariot wheel. as a function of axial position ../nowiki>" Spherical coordinates In a spherical coordinate system, the radius describes the distance of a point from a fixed origin. Its position if further defined by the polar angle measured between the radial direction and a fixed zenith direction, and the azimuth angle, the angle between the orthogonal projection of the radial direction on a reference plane that passes through the origin and is orthogonal to the zenith, and a fixed reference direction in that plane. See also *Bend radius *Filling radius in Riemannian geometry *Radius of convergence *Radius of convexity * Radius of curvature *Radius of gyration ''Radius of gyration'' or gyradius of a body about the axis of ro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Humerus
The humerus (; ) is a long bone in the arm that runs from the shoulder to the elbow. It connects the scapula and the two bones of the lower arm, the radius and ulna, and consists of three sections. The humeral upper extremity consists of a rounded head, a narrow neck, and two short processes (tubercles, sometimes called tuberosities). The body is cylindrical in its upper portion, and more prismatic below. The lower extremity consists of 2 epicondyles, 2 processes ( trochlea & capitulum), and 3 fossae ( radial fossa, coronoid fossa, and olecranon fossa). As well as its true anatomical neck, the constriction below the greater and lesser tubercles of the humerus is referred to as its surgical neck due to its tendency to fracture, thus often becoming the focus of surgeons. Etymology The word "humerus" is derived from la, humerus, umerus meaning upper arm, shoulder, and is linguistically related to Gothic ''ams'' shoulder and Greek ''ōmos''. Structure Upper extremity The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genitalia
A sex organ (or reproductive organ) is any part of an animal or plant that is involved in sexual reproduction. The reproductive organs together constitute the reproductive system. In animals, the testis in the male, and the ovary in the female, are called the ''primary sex organs''. All others are called ''secondary sex organs'', divided between the external sex organs—the genitals or external genitalia, visible at birth in both sexes—and the internal sex organs. Mosses, ferns, and some similar plants have gametangia for reproductive organs, which are part of the gametophyte. The flowers of flowering plants produce pollen and egg cells, but the sex organs themselves are inside the gametophytes within the pollen and the ovule. Coniferous plants likewise produce their sexually reproductive structures within the gametophytes contained within the cones and pollen. The cones and pollen are not themselves sexual organs. Terminology The ''primary sex organs'' are the gonads, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Facies
In geology, a facies ( , ; same pronunciation and spelling in the plural) is a body of rock with specified characteristics, which can be any observable attribute of rocks (such as their overall appearance, composition, or condition of formation), and the changes that may occur in those attributes over a geographic area. A facies encompasses all of the characteristics of a rock including its chemical, physical, and biological features that distinguish it from adjacent rock. The term facies was introduced by the Swiss geologist Amanz Gressly in 1838 and was part of his significant contribution to the foundations of modern stratigraphy, which replaced the earlier notions of Neptunism. Types of facies Sedimentary facies Ideally, a sedimentary facies is a distinctive rock unit that forms under certain conditions of sedimentation, reflecting a particular process or environment. Sedimentary facies are either descriptive or interpretative. Sedimentary facies are bodies of sediment ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heredity
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of its genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, suntanned ski ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
