|
Megalencephaly
Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large. It is characterized by a brain with an average weight that is 2.5 standard deviations above the mean of the general population. Approximately 1 out of 50 children (2%) are said to have the characteristics of megalencephaly in the general population. A mutation in the PI3K/AKT/mTOR pathway, PI3K-AKT pathway is believed to be the primary cause of brain proliferation and ultimately the root cause of megalencephaly. This mutation has produced a classification of brain overdevelopment that consists of two syndromes including megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH). Megalencephaly is usually diagnosed at birth and is confirmed with an MRI. There are several neuropsychiatric disorders linked with megalencephaly; however, studies have shown that autism is the most prevalent association with the ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Megalencephaly-capillary Malformation
Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, Blood vessel, vascular, neurologic, and limb abnormalities. Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation (naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition), body asymmetry (also called hemihyperplasia or hemihypertrophy), polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable Intellectual disability, developmental delay and other neurologic problems such as seizures and low muscle tone. Genetics Mosaic mutations in PIK3CA have been found to be the genetic cause of M-CM. Other overgrowth conditions with distinct phenotypes have also been found to be caused by mosaic mutations in PIK3CA. How dif ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Macrocephaly
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a Heredity, familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular Disorder (medicine), disorders. Those with benign or familial macrocephaly are considered to have megalencephaly. Causes Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be pathological. Pathologic macrocephaly may be due to megalencephaly (enlarged brain), hydrocephalus (abnormally increased cerebrospinal fluid), cranial hyperostosis (bone overgrowth), and other conditions. Pathologic macrocephaly is called "syndromic", when it is associated with any other noteworthy condition, and "nonsyndromic" otherwise. Pathologic macrocephaly may be caused by congenital anatomic abnormalities, genetic conditions, or by environmental events. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hydrocephalus
Hydrocephalus is a condition in which cerebrospinal fluid (CSF) builds up within the brain, which can cause pressure to increase in the skull. Symptoms may vary according to age. Headaches and double vision are common. Elderly adults with normal pressure hydrocephalus (NPH) may have poor balance, difficulty controlling urination, or mental impairment. In babies, there may be a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and downward pointing of the eyes. Hydrocephalus can occur due to birth defects (primary) or can develop later in life (secondary). Hydrocephalus can be classified via mechanism into communicating, noncommunicating, ''ex vacuo'', and normal pressure hydrocephalus. Diagnosis is made by physical examination and medical imaging, such as a CT scan. Hydrocephalus is typically treated through surgery. One option is the placement of a shunt system. A procedure called an endoscopic third ventriculostomy has gained ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incomp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Early-onset Parkinsonism-intellectual Disability Syndrome
Early-onset parkinsonism-intellectual disability syndrome is a very rare genetic disorder which is characterized by intellectual disabilities, psychomotor developmental delays, macrocephaly, and Parkinson's disease which starts before the age of 45 (early onset PD). Additional symptoms include epilepsy, strabismus, and frontal bossing. Causes This disorder is either caused by alterations or deletions of the RAB39B gene in chromosome Xq28 which are inherited in an X-linked recessive manner. Epidemiology More than 12 cases from 3 families from Australia and the U.S. The United States of America (USA), also known as the United States (U.S.) or America, is a country primarily located in North America. It is a federal republic of 50 states and a federal capital district, Washington, D.C. The 48 contiguous ... have been described in medical literature. References {{reflist X-linked recessive disorders Genetic syndromes Syndromes with intellectual disability Pa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Curry–Jones Syndrome
Curry–Jones syndrome is a rare genetic disorder characterized by congenital brain, osseous, cutaneous, ocular, and intestinal anomalies. Signs and symptoms Individuals with this condition usually have the following symptoms: * One-sided coronal craniosynostosis * Multiple suture synostosis * Agenesis of the corpus callosum that can either be complete or partial * Polysyndactyly, preaxial type * Hand/foot syndactyly * Pearl-white areas in the skin that are prone to scarring and suffer from atrophy * Eye, cheek, and limb hair growth abnormalities * Iris coloboma * Microphthalmia * Congenital short gut * Intestinal malrotation * Dysmotility * Chronic constipation * Intestinal bleeding * Myofibroma Some individuals may also display the following features: * Developmental delays * Variable intellectual disability * Intra-abdominal smooth muscle hamartomas * Skin trichoblastoma * Occipital meningoceles * Desmoplastic medulloblastoma Causes This condition is caused by mosaic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Apert Syndrome
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first Pharyngeal arch, branchial (or pharyngeal) arch, the precursor of the maxilla and Human mandible, mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects. In 1906, Eugène Apert, a French physician, described nine people sharing similar attributes and characteristics. Linguistically, in the term "acrocephalosyndactyly", ''acro'' is Greek language, Greek for "peak", referring to the "peaked" head that is common in the syndrome; ''cephalo'', also from Greek, is a combining form meaning "head"; ''syndactyly'' refers to webbing of fingers and toes. In embryology, the hands and feet have selective cells that die in a process called selective cell death, or apoptosis, causing separation of the digits. In the case ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Achondroplasia
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the Rhizomelia, arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an Macrocephaly, enlarged head with Skull bossing, prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (''FGFR3'') gene that results in its protein being Gain-of-function, overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within car ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Epilepsy
Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, Brain tumor, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hyperactivity
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by symptoms of inattention, hyperactivity, impulsivity, and emotional dysregulation that are excessive and pervasive, impairing in multiple contexts, and developmentally inappropriate. ADHD symptoms arise from executive dysfunction. Impairments resulting from deficits in self-regulation such as time management, inhibition, task initiation, and sustained attention can include poor professional performance, relationship difficulties, and numerous health risks, collectively predisposing to a diminished quality of life and a reduction in life expectancy. As a consequence, the disorder costs society hundreds of billions of US dollars each year, worldwide. It is associated with other mental disorders as well as non-psychiatric disorders, which can cause additional impairment. While ADHD involves a lack of sustained attention to tasks, inhibitory deficits also can lead to diffic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Stoddart 79
Stoddart is a surname. Notable people with the surname include: * Alexander "Sandy" Stoddart (born 1959), Scottish sculptor *Andrew Stoddart (1863–1915), English cricketer and rugby union player * Archibald Peile Stoddart (1860–1939), British admiral * Cassie Jo Stoddart (1989-2006), American murder victim * Charles Stoddart (1806–1842), British officer and diplomat, who was put to death by the Emir of Bukhara *David Stoddart, Baron Stoddart of Swindon (born 1926), British independent Labour politician *David Stoddart (geographer), coral atoll expert *Fraser Stoddart (1942–2024), British-American chemist * Greta Stoddart (born 1966), English poet *Jennifer Stoddart, Privacy Commissioner of Canada * Jessamy Stoddart (born 1993), English actress * Joseph Stoddart (1932–2019), English anaesthetist *Joseph Marshall Stoddart (1845–1921), American magazine editor * Margaret Stoddart (1865-1934), New Zealand artist * Morgan Stoddart (born 1984), Welsh rugby union footballer *P ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
