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Brachygnathia
Micrognathism is a condition where the jaw is undersized. It is also sometimes called Human mandible, mandibular hypoplasia. It is common in infants, but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnormal tooth alignment and in severe cases can hamper feeding. It can also, both in adults and children, make intubation difficult, either during anesthesia or in emergency situations. Causes According to the NCBI, the following conditions feature micrognathism: * Jacobsen syndrome, 11q partial monosomy syndrome * 3-methylglutaconic aciduria, type VIIB * XY female, 46,XY sex reversal 4 * Wolf-Hirschhorn syndrome, 4p partial monosomy syndrome * Achard syndrome * Acrofacial dysostosis Cincinnati type * Acrofacial dysostosis Rodriguez type * Acrofacial dysostosis, Catania type * Acromegaloid facial appearance syndrome * Adams-Oliver syndrome 2 * Agnathia-otocephaly complex * ALG1-congenital disorder of glycosylation * Alveolar cap ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wolf–Hirschhorn Syndrome
Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 el(4)(p16.3) Features include a distinct craniofacial phenotype and intellectual disability. Signs and symptoms The most common characteristics include a distinct craniofacial phenotype ( microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness. Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal. Genetics Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ALG1
Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ''ALG1'' whose structure and function has been conserved from lower to higher organisms. Function The biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner. The Alg1 mannosyltransferase I (MT I) catalyzes the first mannosylation step in this process. Clinically, the deficiency of ALG1 in humans results in ALG1-CDG, a congenital disorder of glycosylation A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defect .... References Further reading * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview * {{Glycosyltransferases ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Robinow Syndrome
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external sex organ, genitalia, and vertebrae, vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the ''American Journal of Diseases of Children''. By 2002, over 100 cases had been documented and introduced into medical literature. Two forms of the disorder exist, dominant gene, dominant and recessive gene, recessive, of which the former is more common. Patients with the dominant version often suffer moderately from the aforementioned symptoms. Recessive cases, on the other hand, are usually more physically marked, and individuals may exhibit more skeleton, skeletal abnormalities.Robinow Syndrome Foundation. General Information'. Accessed 19 May 2006. The recessive form is particularly frequent in Turkey. However, this can likely be expl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, 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 Heredity, 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, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AUTS2
AUTS2, activator of transcription and developmental regulator is a protein that in humans is encoded by the AUTS2 gene. Function This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers Cancer is a group of diseases involving Cell growth#Disorders, abnormal cell growth with the potential to Invasion (cancer), invade or Metastasis, spread to other parts of the body. These contrast with benign tumors, which do not spread. Po .... References Further reading * * * * * * * * * {{gene-7-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum Disorder
Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing differences, Special interest (autism), focused interests, and repetitive behaviors, which may include stimming. Formal Diagnosis of autism, diagnosis requires significant challenges in multiple domains of life, with characteristics that are atypical or more pronounced than expected for one's age and sociocultural context.(World Health Organization: International Classification of Diseases version 11 (ICD-11)): https://icd.who.int/browse/2024-01/mms/en#437815624 Motor coordination difficulties are common but not required for diagnosis. Autism is a spectrum disorder, resulting in wide variations in presentation and support needs, such as that between speaking and Nonverbal autism, non-speaking populations. Increased estimates of Epidemiology ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Agenesis Of The Corpus Callosum
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain, in the embryo is disrupted. The result of this is that the fibers that would otherwise form the corpus callosum are instead longitudinally oriented along the ipsilateral ventricular wall and form structures called Probst bundles. In addition to agenesis, other degrees of callosal defects exist, including hypoplasia (underdevelopment or thinness), hypogenesis (partial agenesis) or dysgenesis (malformation). ACC is found in many syndromes and can often present alongside hypoplasia of the cerebellar vermis. When this is the case, there can also be an enlarged fourth ventricle or hydrocephalus; this is called Dandy–Walker malformation. Signs and symptoms Laboratory research has demonstrated that individuals with ACC have ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myelin
Myelin Sheath ( ) is a lipid-rich material that in most vertebrates surrounds the axons of neurons to insulate them and increase the rate at which electrical impulses (called action potentials) pass along the axon. The myelinated axon can be likened to an electrical wire (the axon) with insulating material (myelin) around it. However, unlike the plastic covering on an electrical wire, myelin does not form a single long sheath over the entire length of the axon. Myelin ensheaths part of an axon known as an internodal segment, in multiple myelin layers of a tightly regulated internodal length. The ensheathed segments are separated at regular short unmyelinated intervals, called nodes of Ranvier. Each node of Ranvier is around one micrometre long. Nodes of Ranvier enable a much faster rate of conduction known as saltatory conduction where the action potential recharges at each node to jump over to the next node, and so on till it reaches the axon terminal. At the terminal the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arthrogryposis Multiplex Congenita
Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints' (', 'joint'; ', late Latin form of late Greek ', 'hooking'). Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints. AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic (is a syndrome or part of a syndrome). Amyoplasia is characterized by severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group. Signs and symptoms Often, every joint in a patient with arthrogryposis is affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved. Every join ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arterial Tortuosity Syndrome
Arterial tortuosity syndrome is an extremely rare congenital connective tissue condition disorder characterized by tortuosity, elongation, stenosis, or aneurysms in major and medium-size arteries including the aorta. Signs and symptoms Major manifestations affect the cardiovascular system. * Tortuosity and elongation of major and medium sized arteries. * Stenosis or narrowing of major and medium sized arteries. * Aneurysms or dilations of major and medium sized arteries * Aortic valve regurgitation * Hypertension Non-cardiac signs and symptoms demonstrated by this condition include: * Arachnodactyly * Autonomic dysfunction * Blepharophimosis * Congenital diaphragmatic hernia * Keratoconus * Mental dysfunction * Telangiectasia (small clusters of enlarged blood vessels just under the skin). Genetics Arterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13. The gene associated with arterial tortuosity syndro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aprosencephaly Cerebellar Dysgenesis
Aprosencephaly cerebellar dysgenesis is a rare, non-syndromic central nervous system malformation characterized by the absence of the telencephalon and diencephalic structures. These are often combined with severe abnormalities in the mesencephalon and cerebellum. Signs and symptoms Features of this condition include: * Forked uvula * Clubfoot * Retinal dysplasia * Premature skull fusion in infants * Micrognathia * Absent mesencephalon * Aprosencephaly * Cerebellar dysplasia * Poorly formed metencephalon Malformations extending to the hands and feet have also been described. Causes This condition is genetic, but its origins are unclear. The symptoms presented suggested OTX2 expression, but testing found no variation of OTX2 in patients. This condition is believed to be autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homolog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Andersen–Tawil Syndrome
Andersen–Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. The three predominant features of Andersen–Tawil syndrome include disturbances of the electrical function of the heart characterised by an abnormality seen on an Electrocardiography, electrocardiogram (a long QT interval) and a tendency to Heart arrhythmia, abnormal heart rhythms, physical characteristics including low-set ears and a Micrognathism, small lower jaw, and intermittent periods of muscle weakness known as Hypokalemic periodic paralysis, hypokalaemic periodic paralysis. Andersen–Tawil syndrome is inherited in an autosomal dominant pattern. It is caused in most cases by a mutation in the Kir2.1, ''KCNJ2'' gene which encodes an ion channel that transports potassium out of cardiac muscle cells. The arrhythmias seen in the condition can be treated with flecainide or Beta blocker, beta-blockers, but an Implantable cardioverter- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
