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High-arched Palate
A high-arched palate (also termed high-vaulted palate) is where the palate is unusually high and narrow. It is usually a congenital developmental feature that results from the failure of the palatal shelves to fuse correctly in development, the same phenomenon that leads to cleft palate. It may occur in isolation or in association with a number of conditions. It may also be an acquired condition caused by chronic thumb-sucking. A high-arched palate may result in a narrowed airway and sleep disordered breathing. Examples of conditions which may be associated with a high-arched palate include: * Allergic rhinitis * Apert syndrome * Crouzon syndrome * Down syndrome * Ehlers-Danlos Syndrome * Friedreich's ataxia * Fragile X syndrome * Incontinentia pigmenti * Marfan syndrome * Sotos syndrome * Treacher Collins syndrome * Upper Airway Resistance Syndrome See also * Minor physical anomalies * Bardet–Biedl syndrome Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fragile X Syndrome
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder. The average IQ in males with FXS is under 55, while affected females tend to be in the borderline to normal range, typically around 70–85. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females. This disorder and finding of fragile X syndrome has an X-linked dominant inheritance. It is typically caused by an expansion of the CGG triplet repeat within the '' FMR1'' (fragile X messenger ribonucleoprotein 1) gene on the X chromosome. This results in silencing ( methylation) of this part of the gene and a deficiency of the resultant protein (FMRP), which is required for the normal development of connections between neurons. Diagnosis req ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palate
The palate () is the roof of the mouth in humans and other mammals. It separates the oral cavity from the nasal cavity. A similar structure is found in crocodilians, but in most other tetrapods, the oral and nasal cavities are not truly separated. The palate is divided into two parts, the anterior, bony hard palate and the posterior, fleshy soft palate (or velum). Structure Innervation The maxillary nerve branch of the trigeminal nerve supplies sensory innervation to the palate. Development The hard palate forms before birth. Variation If the fusion is incomplete, a cleft palate results. Function in humans When functioning in conjunction with other parts of the mouth, the palate produces certain sounds, particularly velar, palatal, palatalized, postalveolar, alveolopalatal, and uvular consonants. History Etymology The English synonyms palate and palatum, and also the related adjective palatine (as in palatine bone), are all from the Latin ''palatum' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bardet–Biedl Syndrome
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such. Signs and symptoms Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic throughout adulthood; varying degrees of learning disabilities; male hypogenitalism and complex female genitourinary malformations; and renal dysfunction, a major cause of morbidity and mortality. There ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Minor Physical Anomalies
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue. While MPAs may have a genetic basis, they might also be caused by factors in the fetal environment: anoxia, bleeding, or infection. MPAs have been linked to disorders of pregnancy and are thought by some to be a marker for insults to the fetal neural development towards the end of the first trimester. Thus, in the neurodevelopmental literature, they are seen as indirect indications of interferences with brain development. MPAs have been studied in autism, Down syndrome, and in schizophrenia. A 2008 meta-analysis found that MPAs are significantly increased in the autistic population. A 1998 study found that 60% of its schizophrenic sample and 38% of their siblings had 6 or more MPAs (especially ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Upper Airway Resistance Syndrome
Upper airway resistance syndrome (UARS) is a sleep disorder characterized by the narrowing of the airway that can cause disruptions to sleep. The symptoms include snoring, unrefreshing sleep, fatigue, sleepiness, chronic insomnia, and difficulty concentrating. UARS can be diagnosed by polysomnograms capable of detecting Respiratory Effort-related Arousals. It can be treated with lifestyle changes, functional orthodontics, surgery, mandibular repositioning devices or CPAP therapy. UARS is considered a variant of sleep apnea, although some scientists and doctors believe it to be a distinct disorder. History Upper airway resistance syndrome was first recognized at Stanford University in the late 1980s. The article that described it by name, along with its relationship to obstructive sleep apnea, was published in 1992 by Guilleminault et al. Signs and symptoms Symptoms of UARS are similar to those of obstructive sleep apnea, but not inherently overlapping. Fatigue, insomnia, daytim ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence. TCS is usually autosomal dominant. More than half the time it occurs as a result of a new mutation rather than being inherited. The involved genes may include '' TCOF1'', '' POLR1C'', or '' POLR1D''. Diagnosis is generally suspected based on symptoms and X-rays, and potentially confirmation by genetic testing. Treacher Collins syndrome is not curable. Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices. Life expectancy is generally normal. TCS occurs in about one in 50,000 people. The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sotos Syndrome
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The disorder may be accompanied by autism, mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger skulls (macrocephaly) than is normal for their age. Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism (an abnormally increased distance between the eyes), and downslanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically, familial cases have also been reported. It is similar to Weave ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfan Syndrome
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with dolichostenomelia, long arms, legs, Arachnodactyly, fingers, and toes. They also typically have hypermobility (joints), exceptionally flexible joints and scoliosis, abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the dura mater, covering of the spinal cord are also commonly affected. The severity of the symptoms is variable. MFS is caused by a mutation in ''FBN1'', one of the genes that make fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria, family history and genetic testing (DNA analysis). Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Incontinentia Pigmenti
''Incontinentia pigmenti'' (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope. The disease is characterized by skin abnormalities that begin in childhood, usually a blistering rash which heals, followed by the development of harder skin growths. The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails. Associated problems can include delayed development, intellectual disability, seizures and other neurological problems. Most males with the disease do not survive to childbirth. ''Incontinentia pigmenti'' is caused by a mutation in the ''IKBKG'' gene, which encodes the NEMO protein, which serves to protect cells against TNF-alpha-induced apoptosis. A lack of IKBKG therefore makes cells more prone to apopto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Friedreich's Ataxia
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination (''ataxia''). The condition typically manifests in childhood or adolescence, with initial symptoms including difficulty walking, loss of balance, and poor coordination. As the disease progresses, it can also impact speech, vision, and hearing. Many individuals with Friedreich's ataxia develop scoliosis, diabetes, and hypertrophic cardiomyopathy, a serious heart condition that is a leading cause of mortality in patients. Friedreich's ataxia is caused by mutations in the ''FXN'' gene, which result in reduced production of frataxin, a protein essential for mitochondrial function, particularly in iron-sulfur cluster biogenesis. The deficiency of frataxin disrupts cellular energy production and leads to oxidative stress, co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palate
The palate () is the roof of the mouth in humans and other mammals. It separates the oral cavity from the nasal cavity. A similar structure is found in crocodilians, but in most other tetrapods, the oral and nasal cavities are not truly separated. The palate is divided into two parts, the anterior, bony hard palate and the posterior, fleshy soft palate (or velum). Structure Innervation The maxillary nerve branch of the trigeminal nerve supplies sensory innervation to the palate. Development The hard palate forms before birth. Variation If the fusion is incomplete, a cleft palate results. Function in humans When functioning in conjunction with other parts of the mouth, the palate produces certain sounds, particularly velar, palatal, palatalized, postalveolar, alveolopalatal, and uvular consonants. History Etymology The English synonyms palate and palatum, and also the related adjective palatine (as in palatine bone), are all from the Latin ''palatum' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
