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Stickler Syndrome
Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. It was first studied and characterized by Gunnar B. Stickler in 1965. Signs and symptoms Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have no signs and symptoms; others have some or all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called the Pierre Robin sequence, is common ... [...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] |
COL2A1
Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen. Gene The COL2A1 gene is located on the long (q) arm of chromosome 12 between positions 13.11 and 13.2, from base pair 46,653,017 to base pair 46,684,527. The expression of COL2A1 is regulated by SOX-9 and retrotransposon gag-like-3 gene RTL3 in chondrocytes. There are two transcripts identified for this gene. Function This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Type II collagen, which adds structure and strength to connective tissues, is found primarily in cartilage, the jelly-like substance that fills the eyeball (the vitreous), the inner ear, and the center portion of the discs between the vertebrae in the spine (nucleus pulposus). Three pro-alpha1(II) chains ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Otolaryngologist
Otorhinolaryngology ( , abbreviated ORL and also known as otolaryngology, otolaryngology–head and neck surgery (ORL–H&N or OHNS), or ear, nose, and throat (ENT)) is a surgical subspecialty within medicine that deals with the surgical and medical management of conditions of the head and neck. Doctors who specialize in this area are called otorhinolaryngologists, otolaryngologists, head and neck surgeons, or ENT surgeons or physicians. Patients seek treatment from an otorhinolaryngologist for diseases of the ear, nose, throat, base of the skull, head, and neck. These commonly include functional diseases that affect the senses and activities of eating, drinking, speaking, breathing, swallowing, and hearing. In addition, ENT surgery encompasses the surgical management of cancers and benign tumors and reconstruction of the head and neck as well as plastic surgery of the face, scalp, and neck. Etymology The term is a combination of Neo-Latin combining forms ('' oto-'' + '' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oral And Maxillofacial Surgery
Oral and maxillofacial surgery (OMFS) is a surgical specialty focusing on reconstructive surgery of the face, facial trauma surgery, the Human mouth, mouth, Human head, head and neck, and jaws, as well as facial plastic surgery including cleft lip and cleft palate surgery. Specialty An oral and maxillofacial surgeon is a specialist surgery, surgeon who treats the entire Craniofacial, craniomaxillofacial complex: Anatomy, anatomical area of the Human mouth, mouth, jaws, face, and Human skull, skull, head and neck as well as associated structures. Depending upon the national jurisdiction, oral and maxillofacial surgery may require a degree in medicine, dentistry or both. United States In the U.S., oral and maxillofacial surgeons, whether possessing a single or dual degree, may further specialise after residency, undergoing additional one or two year sub-specialty oral and maxillofacial surgery fellowship training in the following areas: *Cosmetic surgery#Cosmetic surgery, C ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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. Mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organ (anatomy)
In a multicellular organism, an organ is a collection of Tissue (biology), tissues joined in a structural unit to serve a common function. In the biological organization, hierarchy of life, an organ lies between Tissue (biology), tissue and an organ system. Tissues are formed from same type Cell (biology), cells to act together in a function. Tissues of different types combine to form an organ which has a specific function. The Gastrointestinal tract, intestinal wall for example is formed by epithelial tissue and smooth muscle tissue. Two or more organs working together in the execution of a specific body function form an organ system, also called a biological system or body system. An organ's tissues can be broadly categorized as parenchyma, the functional tissue, and stroma (tissue), stroma, the structural tissue with supportive, connective, or ancillary functions. For example, the gland's tissue that makes the hormones is the parenchyma, whereas the stroma includes the nerve t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Joint
A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw-Hill Connect. Webp.274/ref> They are constructed to allow for different degrees and types of movement. Some joints, such as the knee, elbow, and shoulder, are self-lubricating, almost frictionless, and are able to withstand compression and maintain heavy loads while still executing smooth and precise movements. Other joints such as suture (joint), sutures between the bones of the skull permit very little movement (only during birth) in order to protect the brain and the sense organs. The connection between a tooth and the jawbone is also called a joint, and is described as a fibrous joint known as a gomphosis. Joints are classified both structurally and functionally. Joints play a vital role in the human body, contributing to movement, sta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyaluronic Acid
Hyaluronic acid (; abbreviated HA; conjugate base hyaluronate), also called hyaluronan, is an anionic, nonsulfated glycosaminoglycan distributed widely throughout connective, epithelial, and neural tissues. It is unique among glycosaminoglycans as it is non-sulfated, forms in the plasma membrane instead of the Golgi apparatus, and can be very large: human synovial HA averages about per molecule, or about 20,000 disaccharide monomers, while other sources mention . Medically, hyaluronic acid is used to treat osteoarthritis of the knee and dry eye, for wound repair, and as a cosmetic filler. The average 70 kg (150 lb) person has roughly 15 grams of hyaluronan in the body, one third of which is turned over (i.e., degraded and synthesized) per day. As one of the chief components of the extracellular matrix, it contributes significantly to cell proliferation and migration, and is involved in the progression of many malignant tumors. Hyaluronic acid is also a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arthritis
Arthritis is a general medical term used to describe a disorder that affects joints. Symptoms generally include joint pain and stiffness. Other symptoms may include redness, warmth, Joint effusion, swelling, and decreased range of motion of the affected joints. In certain types of arthritis, other organs such as the skin are also affected. Onset can be gradual or sudden. There are several types of arthritis. The most common forms are osteoarthritis (most commonly seen in weightbearing joints) and rheumatoid arthritis. Osteoarthritis usually occurs as an individual ages and often affects the hips, knees, shoulders, and fingers. Rheumatoid arthritis is an autoimmune disorder that often affects the hands and feet. Other types of arthritis include gout, lupus, and septic arthritis. These are inflammatory based types of rheumatic disease. Early treatment for arthritis commonly includes resting the affected joint and conservative measures such as heating or icing. Weight Weight ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypermobility (joints)
Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For example, some hypermobile people can bend their thumbs backwards to their Wrist, wrists, bend their knee joints backwards, put their leg behind the head, or perform other contortionist "tricks". It can affect one or more joints throughout the body. Hypermobile joints are common and occur in about 10 to 25% of the population. In a minority of people, pain and other symptoms are present. This may be a sign of hypermobility spectrum disorder (HSD). Hypermobile joints are a feature of genetic Connective tissue disease#Heritable connective tissue disorders, connective tissue disorders such as hypermobility spectrum disorder or Ehlers–Danlos syndrome (EDS). Until new diagnostic criteria were introduced, hypermobility syndrome was sometimes considered identical to hypermobile Ehlers–Danlos syndrome (hEDS), formerly called EDS Type 3. As no genetic test can distinguish the two condi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing Loss With Craniofacial Syndromes
Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer or middle ear, making a significant hearing loss highly likely. Treacher Collins syndrome Individuals with Treacher Collins syndrome often have both cleft palate and hearing loss, in addition to other disabilities. Hearing loss is often secondary to absent, small or unusually formed ears (microtia) and commonly results from malformations of the middle ear. Researchers have found that most patients with Treacher Collins syndrome have symmetric external ear canal abnormalities and symmetrically dysmorphic or absent ossicles in the middle ear space. Inner ear structure is largely normal. Most patients show a moderate hearing impairment or greater, and the type of loss is generally a conductive hearing loss. Patients with Treacher Collins syndrome exhibit hearing losses similar to those of patients with malformed or missing ossicles (Pron ... [...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] |
