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Muenke Syndrome
Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by Maximilian Muenke, the syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis. Signs and symptoms Many people with this disorder have a premature fusion of skull bones along the coronal suture. Not every case has had craniosynostosis however. Other parts of the skull may be malformed as well. This will usually cause an abnormally shaped head, wide-set eyes, low set ears and flattened cheekbones in these patients. About 5 percent of affected individuals have an enlarged head (macrocephaly). There may also be associated hearing loss in 10–33% of cases and it is important for affected individuals to have hearing tests to check on the possibility of a problem. They ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone
A bone is a rigid organ that constitutes part of the skeleton in most vertebrate animals. Bones protect the various other organs of the body, produce red and white blood cells, store minerals, provide structure and support for the body, and enable mobility. Bones come in a variety of shapes and sizes and have complex internal and external structures. They are lightweight yet strong and hard and serve multiple functions. Bone tissue (osseous tissue), which is also called bone in the uncountable sense of that word, is hard tissue, a type of specialised connective tissue. It has a honeycomb-like matrix internally, which helps to give the bone rigidity. Bone tissue is made up of different types of bone cells. Osteoblasts and osteocytes are involved in the formation and mineralisation of bone; osteoclasts are involved in the resorption of bone tissue. Modified (flattened) osteoblasts become the lining cells that form a protective layer on the bone surface. The mine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Learning Disabilities
Learning disability, learning disorder, or learning difficulty (British English) is a condition in the brain that causes difficulties comprehending or processing information and can be caused by several different factors. Given the "difficulty learning in a typical manner", this does not exclude the ability to learn in a different manner. Therefore, some people can be more accurately described as having a "learning difference", thus avoiding any misconception of being disabled with a possible lack of an ability to learn and possible negative stereotyping. In the United Kingdom, the term "learning disability" generally refers to an intellectual disability, while conditions such as dyslexia and dyspraxia are usually referred to as "learning difficulties". While ''learning disability'' and ''learning disorder'' are often used interchangeably, they differ in many ways. Disorder refers to significant learning problems in an academic area. These problems, however, are not enough to w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Surface Receptor Deficiencies
Cell most often refers to: * Cell (biology), the functional basic unit of life * Cellphone, a phone connected to a cellular network * Clandestine cell, a penetration-resistant form of a secret or outlawed organization * Electrochemical cell, a device used to convert chemical energy to electrical energy * Prison cell, a room used to hold people in prisons Cell may also refer to: Arts, entertainment, and media Fictional entities * Cell (comics), a Marvel comic book character * Cell (''Dragon Ball''), a character in the manga series ''Dragon Ball'' Literature * ''Cell'' (novel), a 2006 horror novel by Stephen King * "Cells", poem, about a hungover soldier in gaol, by Rudyard Kipling * ''The Cell'' (play), an Australian play by Robert Wales Music * Cell (music), a small rhythmic and melodic design that can be isolated, or can make up one part of a thematic context * Cell (American band) * Cell (Japanese band) * ''Cell'' (album), a 2004 album by Plastic Tree * ''Cells'', a 1998 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders
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 diagn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FGFR3
Fibroblast growth factor receptor 3 (FGFR-3) is a protein that in humans is encoded by the ''FGFR3'' gene. FGFR3 has also been designated as CD333 (cluster of differentiation 333). The gene, which is located on chromosome 4, location p16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys. The FGFR3 gene produces various forms of the FGFR-3 protein; the location varies depending on the isoform of FGFR-3. Since the different forms are found within different tissues the protein is responsible for multiple growth factor interactions. Gain of function mutations in FGFR3 inhibits chondrocyte proliferation and underlies achondroplasia and hypochondroplasia. Function FGFR-3 is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein wou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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] |
Autosomal Dominant Pedigree Chart
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 XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular 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 chromosome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Goddard 22 (top)
Goddard is a both a given name and a surname, which may refer to: People * Goddard (given name) * Goddard (surname) Goddard is a popular surname Places in the United States *Goddard, Kansas * Goddard, Kentucky *Goddard, Maryland *Goddard College, a low-residency college with campuses in Vermont and Washington * Goddard Memorial State Park, Warwick, Rhode Island * Homer, Indiana, also known as Goddard *Maurice K. Goddard State Park, New Vernon Township, Pennsylvania Named after Robert H. Goddard * Goddard (crater), a lunar crater along the eastern limb of the Moon * Goddard High Resolution Spectrograph, a spectrograph installed on the Hubble Space Telescope * Goddard High School (New Mexico), Roswell, New Mexico * Goddard Space Flight Center, a major NASA space science laboratory in Greenbelt, Maryland ** Goddard Institute for Space Studies, component laboratory of Goddard Space Flight Center * Blue Origin Goddard, a private spacecraft which first flew in November 2006 * Versi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ult ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing Loss
Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to acquire spoken language, and in adults it can create difficulties with social interaction and at work. Hearing loss can be temporary or permanent. Hearing loss related to age usually affects both ears and is due to cochlear hair cell loss. In some people, particularly older people, hearing loss can result in loneliness. Hearing loss may be caused by a number of factors, including: genetics, ageing, exposure to noise, some infections, birth complications, trauma to the ear, and certain medications or toxins. A common condition that results in hearing loss is chronic ear infections. Certain infections during pregnancy, such as cytomegalovirus, syphilis and rubella, may also cause hearing loss in the child. Hearing loss is diagnosed when hearing ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Skull
The skull, or cranium, is typically a bony enclosure around the brain of a vertebrate. In some fish, and amphibians, the skull is of cartilage. The skull is at the head end of the vertebrate. In the human, the skull comprises two prominent parts: the neurocranium and the facial skeleton, which evolved from the first pharyngeal arch. The skull forms the frontmost portion of the axial skeleton and is a product of cephalization and vesicular enlargement of the brain, with several special senses structures such as the eyes, ears, nose, tongue and, in fish, specialized tactile organs such as barbels near the mouth. The skull is composed of three types of bone: cranial bones, facial bones and ossicles, which is made up of a number of fused flat and irregular bones. The cranial bones are joined at firm fibrous junctions called sutures and contains many foramina, fossae, processes, and sinuses. In zoology, the openings in the skull are called fenestrae, the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrocephaly
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a Heredity, familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular Disorder (medicine), disorders. Those with benign or familial macrocephaly are considered to have megalencephaly. Causes Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be pathological. Pathologic macrocephaly may be due to megalencephaly (enlarged brain), hydrocephalus (abnormally increased cerebrospinal fluid), cranial hyperostosis (bone overgrowth), and other conditions. Pathologic macrocephaly is called "syndromic", when it is associated with any other noteworthy condition, and "nonsyndromic" otherwise. Pathologic macrocephaly may be caused by congenital anatomic abnormalities, genetic conditions, or by environmental events. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
