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Albinism–deafness Syndrome
Albinism–deafness syndrome is a condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation. A locus at Xq26.3-q27.I has been suggested. It has been suggested that it is a form of Waardenburg syndrome type II. See also * Albinism Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and pink or blue eyes. Individuals with the condition are referred to as albino. Varied use and interpretation of the term ... References External links Albinism Disturbances of human pigmentation Syndromes affecting the skin Syndromes with sensorineural hearing loss Rare genetic syndromes {{Cutaneous-condition-stub ... [...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 be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nervous System
In biology, the nervous system is the highly complex part of an animal that coordinates its actions and sensory information by transmitting signals to and from different parts of its body. The nervous system detects environmental changes that impact the body, then works in tandem with the endocrine system to respond to such events. Nervous tissue first arose in wormlike organisms about 550 to 600 million years ago. In vertebrates it consists of two main parts, the central nervous system (CNS) and the peripheral nervous system (PNS). The CNS consists of the brain and spinal cord. The PNS consists mainly of nerves, which are enclosed bundles of the long fibers or axons, that connect the CNS to every other part of the body. Nerves that transmit signals from the brain are called motor nerves or '' efferent'' nerves, while those nerves that transmit information from the body to the CNS are called sensory nerves or '' afferent''. Spinal nerves are mixed nerves that serve both fu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing Impairment
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. Deaf people usually have little to no hearing. 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. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Piebald
A piebald or pied animal is one that has a pattern of unpigmented spots (white) on a pigmented background of hair, feathers or scales. Thus a piebald black and white dog is a black dog with white spots. The animal's skin under the white background is not pigmented. Location of the unpigmented spots is dependent on the migration of melanoblasts (primordial pigment cells) from the neural crest to paired bilateral locations in the skin of the early embryo. The resulting pattern appears symmetrical only if melanoblasts migrate to both locations of a pair and proliferate to the same degree in both locations. The appearance of symmetry can be obliterated if the proliferation of the melanocytes (pigment cells) within the developing spots is so great that the sizes of the spots increase to the point that some of the spots merge, leaving only small areas of the white background among the spots and at the tips of the extremities. Animals with this pattern may include birds, cats, cattl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypopigmentation
Hypopigmentation is characterized specifically as an area of skin becoming lighter than the baseline skin color, but not completely devoid of pigment. This is not to be confused with depigmentation, which is characterized as the absence of all pigment. It is caused by melanocyte or melanin depletion, or a decrease in the amino acid tyrosine, which is used by melanocytes to make melanin. Some common genetic causes include mutations in the tyrosinase gene or OCA2 gene. As melanin pigments tend to be in the skin, eye, and hair, these are the commonly affected areas in those with hypopigmentation. Hypopigmentation is common and approximately one in twenty have at least one hypopigmented macule. Hypopigmentation can be upsetting to some, especially those with darker skin whose hypopigmentation marks are seen more visibly. Most causes of hypopigmentation are not serious and can be easily treated. Presentation Associated conditions It is seen in: * Albinism * Idiopathic guttate hypom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Waardenburg Syndrome
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or Heterochromia iridum, one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with Camptodactyly, permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types (2E and PCWH) that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities. The syndrome is caused by mutations in any of several genes that affect the Cell division, division and Cell migration, migration of neural crest cells d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Albinism
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and pink or blue eyes. Individuals with the condition are referred to as albino. Varied use and interpretation of the terms mean that written reports of albinistic animals can be difficult to verify. Albinism can reduce the survivability of an animal; for example, it has been suggested that albino alligators have an average survival span of only 24 hours due to the lack of protection from UV radiation and their lack of camouflage to avoid predators. It is a common misconception that all albino animals have characteristic pink or red eyes (resulting from the lack of pigment in the iris allowing the blood vessels of the retina to be visible), however this is not the case for some forms of albinism. Familiar albino animals include in-bred strains of laboratory animals (rats, mice and rabbits), but populations of naturally occurring albino animals exist in the wil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Disturbances Of Human Pigmentation
Disturbance and its variants may refer to: Math and science * Disturbance (ecology), a temporary change in average environmental conditions that causes a pronounced change in an ecosystem * Disturbance (geology), linear zone of faults and folds * Sudden ionospheric disturbance, an abnormally high plasma density in the D region of the ionosphere caused by a solar flare * Disturbance (statistics), the deviation of the observed value from the (unobservable) true function value * Serious emotional disturbance, a mental illness Arts and media Film * Disturbance (2014 film), a section, and former title, of the film ''Tales of the Supernatural'' * ''Disturbance'' (1942 film), an Italian drama film * ''Domestic Disturbance'', a 2001 American psychological thriller film Music * ''Disturbance'' (Concord Dawn album), 2001 * ''Disturbance'' (Test Dept. album), 2019 * "Disturbance" (BoA song) , a 2013 digital single by South Korean singer BoA * "Disturbance," a song by Eyehategod f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Skin
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes With Sensorineural Hearing Loss
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
