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Single Transverse Palmar Crease
In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases. Although it is found more frequently in persons with several abnormal medical conditions, it is not predictive of any of these conditions since it is also found in persons with no abnormal medical conditions. This crease is estimated to occur in 1.5-3% of the general population, although it is more common in East Asian and Native American populations. Former name Because it resembles the usual condition of non-human simians, it was, in the past, called the simian crease or simian line. These terms have widely fallen out of favor due to their pejorative connotation. Medical significance This crease is found in 45% of people with down syndrome. The presence of a single transverse palmar has been associated with several abnormal medical conditions—that is, it is found at a higher than 1.5% frequency, but in all of these condi ... [...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] |
Chromosome 13
Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cell (biology), cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 13. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (Consensus CDS Project, CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 13. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDC/BPA
The British Pediatric Association Classification of Diseases is a system of diagnostic codes used for pediatrics. An extension to ICD-9 was published in 1979. An extension to ICD-10 has also been published. It is the basis for the U.S. Centers for Disease Control and Prevention The Centers for Disease Control and Prevention (CDC) is the National public health institutes, national public health agency of the United States. It is a Federal agencies of the United States, United States federal agency under the United S ...'s six digit codes for reportable congenital conditions. These are also known as the "CDC/BPA codes". This system is in turn is the basis for the Texas Disease Index. References Diagnosis codes {{UK-med-org-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dermatoglyphics
Dermatoglyphics (from Ancient Greek ''derma'', "skin", and ''glyph'', "carving") is the scientific study of fingerprints, lines, mounts and shapes of hands, as distinct from the superficially similar pseudoscience of palmistry. Dermatoglyphics also refers to the making of naturally occurring ridges on certain body parts, namely palms, fingers, soles, and toes. These are areas where hair usually does not grow, and these ridges allow for increased leverage when picking up objects or walking barefoot. In a 2009 report, the scientific basis underlying dermatoglyphics was questioned by the National Academy of Sciences, for the discipline's reliance on subjective comparisons instead of conclusions drawn from the scientific method. History 1823 marks the beginning of the scientific study of Dermis#Dermal papillae, papillary ridges of the hands and feet, with the work of Jan Evangelista Purkyně. By 1858, Sir William Herschel, 2nd Baronet, while in India, became the first European to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ. Craniosynostosis occurs in one in 2000 births. Craniosynostosis is part of a syndrome in 15% to 40% of affected patients, but it usually occurs as an isol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Poland Syndrome
Poland syndrome is a birth defect characterized by an underdeveloped Pectoralis major, chest muscle and symbrachydactyly, short webbed fingers on one side of the body. There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body. Typically, the right side is involved. Those affected generally have normal movement and health. The cause of Poland syndrome is unknown. One theory is that it is due to disruption of blood flow during embryonic development. It is generally not heredity, inherited, and no genes that contribute to the disorder have been identified. Diagnosis of Poland syndrome is based on its symptoms. Often, those with the syndrome remain undiagnosed, and some may not realize they have it until puberty. Treatment of Poland syndrome depends on its severity and may include surgical correction. The syndrome affects about 1 in 20,000 newborns, and males are affected twice as often as females. It is named after English surgeon Si ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Robinow Syndrome
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external sex organ, genitalia, and vertebrae, vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the ''American Journal of Diseases of Children''. By 2002, over 100 cases had been documented and introduced into medical literature. Two forms of the disorder exist, dominant gene, dominant and recessive gene, recessive, of which the former is more common. Patients with the dominant version often suffer moderately from the aforementioned symptoms. Recessive cases, on the other hand, are usually more physically marked, and individuals may exhibit more skeleton, skeletal abnormalities.Robinow Syndrome Foundation. General Information'. Accessed 19 May 2006. The recessive form is particularly frequent in Turkey. However, this can likely be expl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal-cell carcinoma syndrome (NBCCS) is a rare inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with NBCCS are prone to developing various cancers, including a common and usually non-life-threatening form of non-melanoma skin cancer called basal-cell carcinomas (BCCs). Only about 10% of people with the condition do not develop BCCs; the vast majority of patients develop numerous BCCs. The name ''Gorlin syndrome'' refers to the American oral pathologist and human geneticist Robert J. Gorlin (1923–2006). The American dermatologist Robert W. Goltz (1923–2014) was his co-author, which is the basis for the term 'Gorlin-Goltz syndrome'. First described in 1960 by Gorlin and Goltz, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 9
Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4.0 and 4.5% of the total DNA in cells. Genes Number of genes These are some of the gene count estimates of human chromosome 9. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 9. For a complete list, see the link in the infobox on the right. Diseases and disorders The follow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder Of Glycosylation Type IIc
Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. It is associated with '' SLC35C1''. This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. Both had severe mental retardation, short stature, a distinctive facial appearance, and the Bombay (hh) blood phenotype, and both were secretor- and Lewis-negative. They both had had recurrent severe bacterial infections similar to those seen in patients with LAD1, including pneumonia, periodontitis, otitis media, and localized cellulitis. Similar to that in patients with LAD1, their infections were accompanied by pronounced leukocytosis (30,000 to 150,000/mm3) but an absence of pus formation at sites of recurrent cellulitis. In vitro studies revealed a pronounced defect in neutr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aarskog–Scott Syndrome
Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome. Signs and symptoms People with Aarskog–Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Other abnormalities in people with Aarskog–Scott syndrome include ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 18
Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in cell (biology), cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 18. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (Consensus CDS Project, CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
