Marshall–Smith Syndrome

	Marshall–Smith Syndrome Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties. Presentation The syndrome is a rare clinical disorder. * Physical Overgrowth Accelerated skeletal maturation Dysmorphic facial features * Prominent eyes * Bluish sclerae * Coarse eyebrows *** Upturned nose * Radiologic examination Accelerated osseous maturation Phalangeal abnormalities Tubular thinning of the long bones Skull abnormalities * Mental Often associated with intellectual disability (of variable degree) Genotype The first gene - NFIX - that could cause the syndrome has been identifi ... [...More Info...] [...Related Items...] OR:** [Wikipedia] [Google] [Baidu]
picture info	Greig Cephalopolysyndactyly Syndrome Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). Presentation The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures and developmental delay. Pathophysiology Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in the ''GLI3'' gene cause Greig cephalopolysyndactyly syndrome. The ''GLI3'' gene provides instructions for making a protein that controls gene expression, which is a process that regul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Failure To Thrive Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children. FTT is usually defined in terms of weight, and can be evaluated either by a low weight for the child's age, or by a low rate of increase in the weight. The term "failure to thrive" has been used in different ways, as there is no objective standard or universally accepted definition for when to diagnose FTT. One definition describes FTT as a fall in one or more weight centile spaces on a World Health Organization (WHO) growth chart depending on birth weight or when weight is below the 2nd percentile of weight for age irrespective of birth weight. Another definition of FTT is a weight for age that is consistently below the 5th percentile or weight for age that falls by at least two major percentile lines on a growth chart. While weight loss after birth is normal and most babies return to their birth weight by three wee ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Syndromes With Intellectual Disability 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 syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	American Journal Of Medical Genetics ''American Journal of Medical Genetics'' is a peer-reviewed medical journal dealing with human genetics Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population gene ... published in three separate sections (parts) by Wiley-Liss: * ''American Journal of Medical Genetics Part A'' * ''American Journal of Medical Genetics Part B: Neuropsychiatric Genetics'' * ''American Journal of Medical Genetics Part C: Seminars in Medical Genetics'' Until 1996 they were one journal under the name ''American Journal of Medical Genetics'', when they split into Part A and Part B. Part C was established in 1999. Tuesday, 6 December 2016 Part A of the journal focuses on specific domains within the discipline of medical genetics. Specifically, it is focused on the study of the cause and pathogenesis (including molecul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Malan Syndrome Malan syndrome (MALNS) is a rare overgrowth syndrome caused by autosomal dominant mutations in the ''NFIX'' gene. The syndrome is characterized by overgrowth, craniofacial dysmorphia, intellectual disability, and behavioral issues. It was formerly diagnosed as Sotos syndrome 2. Signs and symptoms Malan syndrome is defined by initial overgrowth and mild-to-severe intellectual disability. Almost all individuals with Malan syndrome display above-average height, weight, and head circumference in early life, but only one-third of adults with Malan syndrome are >2 standard deviations above the mean. Most individuals display advanced bone age. Hypotonia and seizures may be observed. All individuals display some degree of global developmental delay and intellectual disability which typically ranges from moderate to severe, though mild cases have been observed. Cognitive function, adaptive function, and language skills are impaired. Anxiety and noise hypersensitivity are frequently r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Marshall Syndrome Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three most common areas to be affected are the eyes which are uncommonly large, joints and the mouth and facial structures. Marshall syndrome and Stickler syndrome closely resemble each other; in fact they are so similar, some say they are the same. Presentation Eyes Myopia is the most common eye problem in Marshall syndrome. Cataracts also occur more frequently and detached retina less frequently than in Stickler syndrome. Myopia also is the most common problem with the eyes in Stickler syndrome. In the latter syndrome, extreme myopia may lead to severe eye problems such as detached retina more frequently than in Marshall syndrome. Joints The joint changes include hyperextensibility (double-jointedness) and arthritis. Babies and young children with Stickler syndrome usually have very hyperextensible joints. As an affected child gets older, they may experience pain and stiffness f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Psychomotor Retardation Psychomotor may refer to: * Psychomotor learning, the relationship between cognitive functions and physical movement * Psychomotor retardation, a slowing-down of thought and a reduction of physical movements in an individual * Psychomotor agitation Psychomotor agitation is a symptom in various disorders and health conditions. It is characterized by unintentional and purposeless motions and restlessness, often but not always accompanied by emotional distress. Typical manifestations include ... , a series of unintentional and purposeless motions that stem from mental tension and anxiety of an individual {{disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Pneumonia Pneumonia is an inflammatory condition of the lung primarily affecting the small air sacs known as alveoli. Symptoms typically include some combination of productive or dry cough, chest pain, fever, and difficulty breathing. The severity of the condition is variable. Pneumonia is usually caused by infection with viruses or bacteria, and less commonly by other microorganisms. Identifying the responsible pathogen can be difficult. Diagnosis is often based on symptoms and physical examination. Chest X-rays, blood tests, and culture of the sputum may help confirm the diagnosis. The disease may be classified by where it was acquired, such as community- or hospital-acquired or healthcare-associated pneumonia. Risk factors for pneumonia include cystic fibrosis, chronic obstructive pulmonary disease (COPD), sickle cell disease, asthma, diabetes, heart failure, a history of smoking, a poor ability to cough (such as following a stroke), and a weak immune system. Vaccines to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Bone Age Bone age is the degree of a person's skeletal development. In children, bone age serves as a measure of physiological maturity and aids in the diagnosis of growth abnormalities, endocrine disorders, and other medical conditions. As a person grows from fetal life through childhood, puberty, and finishes growth as a young adult, the bones of the skeleton change in size and shape. These changes can be seen by x-ray and other imaging techniques. A comparison between the appearance of a patient's bones to a standard set of bone images known to be representative of the average bone shape and size for a given age can be used to assign a "bone age" to the patient. Bone age is distinct from an individual's biological or chronological age, which is the amount of time that has elapsed since birth. Discrepancies between bone age and biological age can be seen in people with stunted growth, where bone age may be less than biological age. Similarly, a bone age that is older than a person's chronol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Airway Obstruction Airway obstruction is a blockage of respiration in the airway that hinders the free flow of air. It can be broadly classified into being either in the upper airway (UPA) or lower airway (LOA). Airway obstruction is a life-threatening condition and requires urgent attention, and assistance when it is needed. The assistance to clear an upper airway obstruction would begin employing first-aid anti-choking techniques. Upper airway obstruction Causes of upper airway obstruction include foreign body aspiration, blunt laryngotracheal trauma, penetrating laryngotracheal trauma, tonsillar hypertrophy, paralysis of the vocal cord or vocal fold, acute laryngotracheitis such as viral croup, bacterial tracheitis, epiglottitis, peritonsillar abscess, pertussis, retropharyngeal abscess, spasmodic croup. In basic and advanced life support airway obstructions are often referred to as ''A-problems''. Management of airways relies on both minimal-invasive and invasive techniques. Lower airw ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Chromosome 19 Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building material of DNA. It is considered the most gene-rich chromosome containing roughly 1,500 genes, despite accounting for only 2 percent of the human genome. Genes Number of genes The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]