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Orofaciodigital Syndrome
Orofaciodigital syndrome or oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of the Human mouth, mouth, facial features, and Digit (anatomy), digits in between 1 in 50,000 to 250,000 newborns with the majority of cases being type I (Papillon-League-Psaume syndrome). __TOC__ Type The different types are:s * Type I, Orofaciodigital syndrome 1, Papillon-League-Psaume syndrome * Type II, Mohr syndrome * Type III, Sugarman syndrome * Type IV, Baraitser-Burn syndrome * Type V, Thurston syndrome * Type VI, Varadi-Papp syndrome * Type VII, Whelan syndrome * Type VIII, Oral-facial-digital syndrome, Edwards type (not to be confused with Edwards syndrome) * Type IX, OFD syndrome with retinal abnormalities * Type X, OFD with fibular aplasia * Type XI, Gabrielli syndrome References External links

Rare syndromes Syndromes affecting teeth {{genetic-disorder-stub ...
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Human Mouth
In human anatomy, the mouth is the first portion of the alimentary canal that receives Human food, food and produces saliva. The oral mucosa is the mucous membrane epithelium lining the inside of the mouth. In addition to its primary role as the beginning of the digestive system, the mouth also plays a significant role in communication. While primary aspects of the voice are produced in the throat, the tongue, lips, and human mandible, jaw are also needed to produce the range of sounds included in speech. The mouth consists of two regions, the vestibule and the oral cavity proper. The mouth, normally moist, is lined with a mucous membrane, and contains the human teeth, teeth. The lips mark the transition from mucous membrane to human skin, skin, which covers most of the human body, body. Structure Oral cavity The mouth consists of two regions: the vestibule and the oral cavity proper. The vestibule is the area between the teeth, lips and cheeks. The oral cavity is bound ...
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Facial Feature
The face is the front of the head that features the eyes, nose and mouth, and through which animals express many of their emotions. The face is crucial for human identity, and damage such as scarring or developmental deformities may affect the psyche adversely. Structure The front of the human head is called the face. It includes several distinct areas, of which the main features are: *The forehead, comprising the skin beneath the hairline, bordered laterally by the temples and inferiorly by eyebrows and ears *The eyes, sitting in the orbit and protected by eyelids and eyelashes * The distinctive human nose shape, nostrils, and nasal septum *The cheeks, covering the maxilla and mandible (or jaw), the extremity of which is the chin *The mouth, with the upper lip divided by the philtrum, sometimes revealing the teeth Facial appearance is vital for human recognition and communication. Facial muscles in humans allow expression of emotions. The face is itself a ...
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Digit (anatomy)
A digit is one of several most distal parts of a limb, such as fingers or toes, present in many vertebrates. Names Some languages have different names for hand and foot digits (English: respectively "finger" and " toe", German: "Finger" and "Zeh", French: "doigt" and "orteil"). In other languages, e.g. Arabic, Russian, Polish, Spanish, Portuguese, Italian, Czech, Tagalog, Turkish, Bulgarian, and Persian, there are no specific one-word names for fingers and toes; these are called "digit of the hand" or "digit of the foot" instead. In Japanese, yubi (指) can mean either, depending on context. Human digits Humans normally have five digits on each extremity. Each digit is formed by several bones called phalanges, surrounded by soft tissue. Human fingers normally have a nail at the distal phalanx. The phenomenon of polydactyly occurs when extra digits are present; fewer digits than normal are also possible, for instance in ectrodactyly. Whether such a mutation can ...
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Papillon-League-Psaume Syndrome
Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system. Presentation Cause Orofaciodigital syndrome type 1 is caused by mutations in the OFD1 gene. OFD1 localizes to both centrosomes and basal bodies within the human genetic cellular structure. This suggests that this syndrome may fall into a broad category of ciliary diseases. The ciliary organelles are present in many cellular types throughout the human body. Cilia defects adversely affect numerous critical developmental signaling pathways essential to cellular development. Other types include: * * * * Relation to other rare genetic disorders Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not prev ...
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Sugarman Syndrome
Sugarman syndrome is the common name of autosomal recessive oral-facial-digital syndrome type III, one of ten distinct genetic disorders that involve developmental defects to the mouth. Alternative names for this condition include: Brachydactyly Brachydactyly () is a medical term denoting the presence of abnormally short digits (fingers or toes) at birth. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant t ... of the hands and feet with duplication of the first toes, Sugarman brachydactyly and Brachydactyly with major proximal phalangeal shortening. References External links Autosomal recessive disorders Rare syndromes {{Genetic-disorder-stub} ...
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Thurston Syndrome
Thurston may refer to: Places Antarctica * Thurston Glacier, Marie Byrd Land * Thurston Island, off Ellsworth Land United Kingdom * Thurston, Suffolk, England, a village and parish ** Thurston railway station United States * Thurston County, Nebraska ** Thurston, Nebraska, a village * Thurston, New York, a town * Thurston, Ohio, a village * Thurston, Oregon (other), several places * Thurston County, Washington * Thurston Creek, Washington * Thurston Lake, California, United States People and fictional characters * Thurston (name), a list of people and fictional characters with the given name or surname Schools * Thurston Community College, a co-educational secondary school and sixth form in Thurston, Suffolk, England * Thurston High School, Springfield, Oregon, United States * Lee M. Thurston High School, Redford, Michigan, United States * Thurston Elementary School, Ann Arbor, Michigan Other uses * Thurston Gardens, botanical gardens in Suva, Fiji * Thurston H ...
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Whelan Syndrome
The family name Whelan is an anglicisation of the Irish surname Ó Faoláin. The surname originates from the Middle Irish (plural ''Uí Faeláin'') the name of the 10th to 11th century ruling dynasty of the Déisi, a population group inhabiting the area of the modern counties of Waterford and Kilkenny in the early medieval period. The word is derived from the Old Irish word ''faelán'' meaning a young (small) wolf; ''-án'' being of the diminutive suffix in Irish. ''Ó'' (anglicised as ''O''') derives from the Old Irish ''úa'', meaning "grandson", or more figuratively "patrilineal descendant". The patronym that follows is always in the genitive case, in accordance with Irish grammatical rules, and is normally marked by an "i" following the final vowel. Therefore, the name Faelán, becomes ''Úa Faeláin'' as a patronym in Middle Irish, from which is derived ''Ó Faoláin'' in Modern Irish, of which in turn ''Whelan'', '' Phelan'', ''O'Phelan'' etc. are anglicisations. Accord ...
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Edwards Syndrome
Edwards may refer to: People * Edwards (surname), an English surname * Edwards family, a prominent family from Chile * Edwards Barham (1937–2014), American politician * Edwards Davis (1873–1936), American actor, producer, and playwright * Edwards Pierrepont (1817–1892), American attorney, jurist, and orator Places United States * Edwards, Arkansas, in List of places in Arkansas: E, Prairie County * Edwards, California * Edwards, Colorado * Edwards, Illinois * Edwards, Kentucky, in Logan County (see April 2, 2006 tornado outbreak) * Edwards Dam, a former dam on the Kennebec River in Maine * Edwards, Michigan * Edwards, Mississippi * Edwards, Missouri * Edwards (town), New York * Edwards (village), New York * Edwards, Wisconsin * Edwards Air Force Base, in California * Edwards Plateau region of Texas ** Edwards Aquifer, an aquifer in that region * Edwards County, Illinois * Edwards County, Kansas * Edwards County, Texas * Edwards Township, Michigan * Edwards Township, Minnesot ...
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Fibular Aplasia
The fibula (: fibulae or fibulas) or calf bone is a leg bone on the lateral side of the tibia, to which it is connected above and below. It is the smaller of the two bones and, in proportion to its length, the most slender of all the long bones. Its upper extremity is small, placed toward the back of the head of the tibia, below the knee joint and excluded from the formation of this joint. Its lower extremity inclines a little forward, so as to be on a plane anterior to that of the upper end; it projects below the tibia and forms the lateral part of the ankle joint. Structure The bone has the following components: * Lateral malleolus * Interosseous membrane connecting the fibula to the tibia, forming a syndesmosis joint * The superior tibiofibular articulation is an arthrodial joint between the lateral condyle of the tibia and the head of the fibula. * The inferior tibiofibular articulation (tibiofibular syndesmosis) is formed by the rough, convex surface of the medial side of ...
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