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Nasodigitoacoustic Syndrome
Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a misshaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay. It is believed to be inherited in an X-linked recessive manner, which means a genetic mutation causing the disorder is located on the X chromosome, and while two copies of the mutated gene must be inherited for a female to be born with the disorder, just one copy is sufficient to cause a male to be born with the disorder. Nasodigitoacoustic syndrome is likely caused by a mutated gene located on the X chromosome between positions Xq22.2–q28. The incidence of the syndrome has not been determined, but it is considered to affect less than 200,000 people in the United States, and no greater than 1 per 2,000 in Europ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
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] |
Teunissen–Cremers Syndrome
Teunissen–Cremers syndrome is a genetic disorder that presents with skeleton defects some of which can include the bones of the inner ear, fingers and toes. This can result in conductive hearing loss Conductive hearing loss (CHL) occurs when there is a problem transferring sound waves anywhere along the pathway through the outer ear, tympanic membrane (eardrum), or middle ear ( ossicles). If a conductive hearing loss occurs in conjunction wi ... and finger deformities. References Bert Teunissen, Cor Cremers. An autosomal dominant inherited syndrome with congenital stapes ankylosis. Laryngoscope 100: April 1990, 380-384 External links Genetic syndromes Deafness Skeletal disorders Syndromes {{Genetic-disorder-stub} ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radiograph
Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnostic" and "therapeutic") and industrial radiography. Similar techniques are used in airport security (where "body scanners" generally use backscatter X-ray). To create an image in conventional radiography, a beam of X-rays is produced by an X-ray generator and is projected toward the object. A certain amount of the X-rays or other radiation is absorbed by the object, dependent on the object's density and structural composition. The X-rays that pass through the object are captured behind the object by a detector (either photographic film or a digital detector). The generation of flat two dimensional images by this technique is called projectional radiography. In computed tomography (CT scanning) an X-ray source and its associated detectors rotate around the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinodactyly
Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger"). It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in certain genetic syndromes. The term is from the Ancient Greek κλίνειν ' 'to bend' and δάκτυλος ' 'digit'. Genetics Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance. Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. Many syndromes are associated with clinodactyly, including those listed below. But the phenotype, by itself, is not a sensitive or specific diagnostic test for these syndromes (it is present in up to 18% of the normal population). * Down syndrome * Turner syndrome * Aa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Distal Phalanges
The phalanges (singular: ''phalanx'' ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bones. Structure The phalanges are the bones that make up the fingers of the hand and the toes of the foot. There are 56 phalanges in the human body, with fourteen on each hand and foot. Three phalanges are present on each finger and toe, with the exception of the thumb and large toe, which possess only two. The middle and far phalanges of the fifth toes are often fused together (symphalangism). The phalanges of the hand are commonly known as the finger bones. The phalanges of the foot differ from the hand in that they are often shorter and more compressed, especially in the proximal phalanges, those closest to the torso. A phalanx is named according to whether it is proximal, middle, or distal and its associated finger or toe. The proximal ... [...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 surgica ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retrognathism
Retrognathia is a type of malocclusion which refers to an abnormal posterior positioning of the maxilla or mandible, particularly the mandible, relative to the facial skeleton and soft tissues. A retrognathic mandible is commonly referred to as an overbite, though this terminology is not used medically. See also * Micrognathism * Prognathism Prognathism, also called Habsburg jaw or Habsburgs' jaw primarily in the context of its prevalence amongst members of the House of Habsburg, is a positional relationship of the mandible or maxilla to the skeletal base where either of the jaws pr ... References External links Diagram at brooksideorthodontics.com - see Classification of Face:Class 2 section Jaw disorders {{disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maxilla
The maxilla (plural: ''maxillae'' ) in vertebrates is the upper fixed (not fixed in Neopterygii) bone of the jaw formed from the fusion of two maxillary bones. In humans, the upper jaw includes the hard palate in the front of the mouth. The two maxillary bones are fused at the intermaxillary suture, forming the anterior nasal spine. This is similar to the mandible (lower jaw), which is also a fusion of two mandibular bones at the mandibular symphysis. The mandible is the movable part of the jaw. Structure In humans, the maxilla consists of: * The body of the maxilla * Four processes ** the zygomatic process ** the frontal process of maxilla ** the alveolar process ** the palatine process * three surfaces – anterior, posterior, medial * the Infraorbital foramen * the maxillary sinus * the incisive foramen Articulations Each maxilla articulates with nine bones: * two of the cranium: the frontal and ethmoid * seven of the face: the nasal, zygomatic, lacrimal, inferior n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maxillary Hypoplasia
Maxillary hypoplasia, or maxillary deficiency, is an underdevelopment of the maxillary bone, bones of the upper jaw. It is associated with Crouzon syndrome, Angelman syndrome, as well as Fetal alcohol syndrome. It can also be associated with Cleft lip and cleft palate. Some people could develop it due to poor dental extractions. Signs and symptoms The underdevelopment of the bones in the upper jaw, which gives the middle of the face a sunken look. This same underdevelopment can make it difficult to eat and can lead to complications such as Nasopharyngeal airway restriction. This restriction causes forward head posture which can then lead to back pain, neck pain, and numbness in the hands and arms. The nasopharyngeal airway restriction can also lead to Sleep apnea and snoring. Sleep apnea can lead to heart problems, endocrine problems, increased weight, and cognition problems, among other issues. Cause Although the exact genetic link for isolated maxillary hypoplasia has not been ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cupid's Bow
The Cupid's bow is a facial feature where the double curve of a human upper lip is said to resemble the bow of Cupid, the Roman god of erotic love. The peaks of the bow coincide with the philtral columns giving a prominent bow appearance to the lip. See also * Philtrum *White roll White roll is the white line that borders the top of the upper lip. It's an adnexal mass of specialized glands and fat. White roll occurs naturally for nearly everyone, although it can be not white and less visible for dark skinned individuals. W ... References External links Facial features Phrases and idioms derived from Greek mythology Cupid Lips {{anatomy-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epicanthic Fold
An epicanthic fold or epicanthus is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. However, variation occurs in the nature of this feature and the possession of "partial epicanthic folds" or "slight epicanthic folds" is noted in the relevant literature.Lang, Berel (ed.) (2000) ''Race and Racism in Theory and Practice'', Rowman & Littlefield, p. 10 Various factors influence whether epicanthic folds form, including ancestry, age, and certain medical conditions. Etymology ''Epicanthus'' means 'above the canthus', with epi-canthus being the Latinized form of the Ancient Greek : 'corner of the eye'. Classification Variation in the shape of the epicanthic fold has led to four types being recognised: * ''Epicanthus supraciliaris'' runs from the brow, curving downwards towards the lachrymal sac. * ''Epicanthus palpebralis'' begins above the upper tarsus and extends to the inferior orbital rim. * ''Epicanthus tarsalis'' originates at ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Supraorbital Ridge
The brow ridge, or supraorbital ridge known as superciliary arch in medicine, is a bony ridge located above the eye sockets of all primates. In humans, the eyebrows are located on their lower margin. Structure The brow ridge is a nodule or crest of bone situated on the frontal bone of the skull. It forms the separation between the forehead portion itself (the squama frontalis) and the roof of the eye sockets (the pars orbitalis). Normally, in humans, the ridges arch over each eye, offering mechanical protection. In other primates, the ridge is usually continuous and often straight rather than arched. The ridges are separated from the frontal eminences by a shallow groove. The ridges are most prominent medially, and are joined to one another by a smooth elevation named the glabella. Typically, the arches are more prominent in men than in women, and vary between different ethnic groups. Behind the ridges, deeper in the bone, are the frontal sinuses. Terminology The brow ridges, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
