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Hallermann–Streiff Syndrome
Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair-growth, and dental development. There are fewer than 200 people with the syndrome worldwide. One notable organization that is supporting people with Hallermann–Streiff syndrome is the Germany-based "Schattenkinder e.V". Presentation Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas. Patients also have eye problems including reduced eye size, bilateral cataracts and glaucoma. The syndrome can be associated with sleep apnea. The physical characteristics of the syndrome can result in difficult intubation by medical professionals. Intelligence is usually normal. Cause The genetic cause of Hallermann–Streiff syndrome has not been conclusively determined. It is most likely due to a ''de novo'' mutation, and it may be associated with the ''GJA1'' gene. Diagnosis Diagnosis is bas ... [...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] |
Tracheostomy
Tracheotomy (, ), or tracheostomy, is a surgical airway management procedure which consists of making an incision (cut) on the anterior aspect (front) of the neck and opening a direct airway through an incision in the Vertebrate trachea, trachea (windpipe). The resulting Stoma (medicine), stoma (hole) can serve independently as an airway or as a site for a tracheal tube or tracheostomy tube to be inserted; this tube allows a person to breathe without the use of the nose or mouth. Etymology and terminology The etymology of the word ''tracheotomy'' comes from two Greek language, Greek words: the root (linguistics), root ''tom-'' (from Ancient Greek, Greek τομή ''tomḗ'') meaning "to cut", and the word ''trachea'' (from Greek τραχεία ''tracheía''). The word ''tracheostomy'', including the root ''stom-'' (from Greek στόμα ''stóma'') meaning "mouth," refers to the making of a semi-permanent or permanent opening, and to the opening itself. Some sources offer differ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders Of Eye, Ear, Face And Neck
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 visibl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Eye
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] |
Rare Diseases
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ailments Of Unknown Cause
A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergies and autoimmune disorders. In humans, ''disease'' is often used more broadly to refer to any condition that causes pain, dysfunction, distress, social problems, or death to the person affected, or similar problems for those in contact with the person. In this broader sense, it sometimes includes injuries, disabilities, disorders, syndromes, infections, isolated symptoms, deviant behaviors, and atypical variations of structure and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enrico Streiff
Enrico is both an Italian masculine given name and a surname, Enrico means homeowner, or king, derived from ''Heinrich'' of Germanic origin. It is also a given name in Ladino. Equivalents in other languages are Henry (English), Henri (French), Enrique (Spanish), Henrique (Portuguese) and Hendrik (Dutch). Notable people with the name include: Given name * Enrico Albertosi (born 1939), Italian former football goalkeeper * Enrico Alfonso (born 1988), Italian football player * Enrico Alvino (1808–1872), Italian architect and urban designer * Enrico Annoni (born 1966), retired Italian professional footballer * Enrico Arrigoni (1894–1986), Italian individualist anarchist * Enrico Baj (1924–2003), Italian artist and art writer * Enrico Banducci (1922–2007), American impresario * Enrico Barone (1859–1924), Italian economist * Enrico Berlinguer (1923–1984), Italian politician * Enrico Bertaggia (born 1964), Italian former racing driver * Enrico Betti (1823–1892), Italian math ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wilhelm Hallermann , the Dutch national anthem
{{Disambiguation ...
Wilhelm may refer to: People and fictional characters * William Charles John Pitcher, costume designer known professionally as "Wilhelm" * Wilhelm (name), a list of people and fictional characters with the given name or surname Other uses * Mount Wilhelm, the highest mountain in Papua New Guinea * Wilhelm Archipelago, Antarctica * Wilhelm (crater), a lunar crater See also * Wilhelm scream, a stock sound effect * SS ''Kaiser Wilhelm II'', or USS ''Agamemnon'', a German steam ship * Wilhelmus "Wilhelmus van Nassouwe", usually known just as "Wilhelmus" ( nl, Het Wilhelmus, italic=no; ; English translation: "The William"), is the national anthem of both the Netherlands and the Kingdom of the Netherlands. It dates back to at least 1572 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mandibular
In anatomy, the mandible, lower jaw or jawbone is the largest, strongest and lowest bone in the human facial skeleton. It forms the lower jaw and holds the lower teeth in place. The mandible sits beneath the maxilla. It is the only movable bone of the skull (discounting the ossicles of the middle ear). It is connected to the temporal bones by the temporomandibular joints. The bone is formed in the fetus from a fusion of the left and right mandibular prominences, and the point where these sides join, the mandibular symphysis, is still visible as a faint ridge in the midline. Like other symphyses in the body, this is a midline articulation where the bones are joined by fibrocartilage, but this articulation fuses together in early childhood.Illustrated Anatomy of the Head and Neck, Fehrenbach and Herring, Elsevier, 2012, p. 59 The word "mandible" derives from the Latin word ''mandibula'', "jawbone" (literally "one used for chewing"), from '' mandere'' "to chew" and ''-bula'' (ins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniofacial Abnormality
Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. They are associated with the development of the pharyngeal arches. Approximately, 5% of the UK or USA population present with dentofacial deformities requiring Orthognathic surgery, jaw surgery, and Orthodontics, brace therapy, as a part of their definitive treatment. Notable conditions * Platybasia * Arrhinia - absence of the nose * Craniosynostosis - premature fusion of the cranial sutures * Cyclopia - one eye * Mobius syndrome Moebius, Möbius or Mobius may refer to: People * August Ferdinand Möbius (1790–1868), German mathematician and astronomer * Theodor Möbius (1821–1890), German philologist * Karl Möbius (1825–1908), German zoologist and ecologist * Paul ... - paralysis of the facial muscles References External links Congenital disorders of musculoskeletal system {{musculoskeletal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniofacial Surgery
Craniofacial surgery is a surgical subspecialty that deals with congenital and acquired deformities of the head, skull, face, neck, jaws and associated structures. Although craniofacial treatment often involves manipulation of bone, craniofacial surgery is not tissue-specific; craniofacial surgeons deal with bone, skin, nerve, muscle, teeth, and other related anatomy. Defects typically treated by craniofacial surgeons include craniosynostosis (isolated and syndromic), rare craniofacial clefts, acute and chronic sequelae of facial fractures, cleft lip and palate, micrognathia, Treacher Collins Syndrome, Apert's Syndrome, Crouzon's Syndrome, Craniofacial microsomia, microtia and other congenital ear anomalies, and many others.Training in craniofacial surgery requires completion of a Craniofacial surgery fellowship. Such fellowships are available to individuals who have completed residency in oral and maxillofacial surgery, plastic and reconstructive surgery, or ENT surgery . Those ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ophthalmologist
Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a medical degree, a doctor specialising in ophthalmology must pursue additional postgraduate residency (medicine), residency training specific to that field. This may include a one-year integrated internship that involves more general medical training in other fields such as internal medicine or general surgery. Following residency, additional specialty training (or fellowship) may be sought in a particular aspect of eye pathology. Ophthalmologists prescribe medications to treat eye diseases, implement laser therapy, and perform surgery when needed. Ophthalmologists provide both primary and specialty eye care - medical and surgical. Most ophthalmologists participate in academic research on eye diseases at some point in their training an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
