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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 mouth, facial features, and 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, 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 The fibula 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 i ... * Ty ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Mouth
In human anatomy, the mouth is the first portion of the alimentary canal that receives 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, in humans the mouth also plays a significant role in communication. While primary aspects of the voice are produced in the throat, the tongue, lips, and 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 teeth. The lips mark the transition from mucous membrane to skin, which covers most of the 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 bounded at the sides and in front by the alveolar proc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Facial Feature
The face is the front of an animal's 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 mandibula (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 highly sen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 be s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Papillon-League-Psaume Syndrome
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League 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. 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 previously identi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orofaciodigital Syndrome 1
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League 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. 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 previously identi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sugarman Syndrome
Sugarman syndrome is the common name of autosomal recessive oral-facial-digital syndrome type III, one of ten distinct genetic disorders A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ... that involve developmental defects to the mouth. Alternative names for this condition include: Brachydactyly of the hands and feet with duplication of the first toes, Sugarman brachydactyly and Brachydactyly with major proximal phalangeal shortening. References External links {{DEFAULTSORT:Sugarman Syndrome Autosomal recessive disorders Rare syndromes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thurston Syndrome
Thurston may refer to: Places Antarctica * Thurston Glacier, Marie Byrd Land, Antarctica * Thurston Island, off Ellsworth Land, Antarctica United Kingdom * Thurston, Suffolk, England, a village ** Thurston railway station *Thurston's Hall, a former snooker and billiards venue in London * Thurston End, a hamlet in Hawkedon parish United States *Thurston County, Nebraska ** Thurston, Nebraska, a village *Thurston, New York, a town * Thurston, Ohio, a village * Thurston, Oregon (other), several places * Thurston, Virginia, an unincorporated community *Thurston County, Washington People * Thurston (name), a list of people with this given name or surname Other uses *Thurston Gardens, botanical gardens in Suva, Fiji * Thurston Elementary School, Ann Arbor, Michigan * Thurston High School, Springfield, Oregon * Thurston House (other), several houses on the US National Register of Historic Places * USS ''Thurston'' (AP-77), a World War II troop transport See also *Thu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 county of Waterford and County 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. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Edwards Syndrome
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability. Most cases of Edwards syndrome occur due to problems during the formation of the reproductive cells or during early development. The rate of disease increases with the mother's age. Rarely, cases may be inherited from a person's parents. Occasionally, not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe. An ultrasound during pregnancy can increase suspicion for the condition, which can be confirmed by amniocentesis. Treatment is supportive. After having one child with the condition, the risk of having a second is typically around one percent. It is the second-most com ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibular Aplasia
The fibula 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 the lower end of th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
