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Weaver Syndrome
Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. It is similar to Sotos syndrome and is classified as an overgrowth syndrome. Its genetic cause was identified in 2011 as mutations in the '' EZH2'' gene. Forty-eight cases had been documented and confirmed , and its prevalence is estimated to be similar to that of Sotos syndrome, around 1 in 15,000. It was first described by American physician David Weaver in 1974. Signs and symptoms Children with Weaver syndrome tend to look similar and have distinctive physical and craniofacial characteristics, which may include several, but not all, of the following features: * Macrocephaly * Large bifrontal diameter * Flattened occiput * Long philtrum * Retrognathia * Round face in infancy * Pro ... [...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 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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertonia
Hypertonia is a term sometimes used synonymously with spasticity and rigidity in the literature surrounding damage to the central nervous system, namely upper motor neuron lesions. Impaired ability of damaged motor neurons to regulate descending pathways gives rise to disordered spinal reflexes, increased excitability of muscle spindles, and decreased synaptic inhibition. These consequences result in abnormally increased muscle tone of symptomatic muscles. Some authors suggest that the current definition for spasticity, the velocity-dependent over-activity of the stretch reflex, is not sufficient as it fails to take into account patients exhibiting increased muscle tone in the absence of stretch reflex over-activity. They instead suggest that "reversible hypertonia" is more appropriate and represents a treatable condition that is responsive to various therapy modalities like drug and/or physical therapy. Presentation Symptoms associated with central nervous systems disorders ar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retrognathia
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] |
Micrognathia
Micrognathism is a condition where the jaw is undersized. It is also sometimes called 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 While not always pathological, it can present as a birth defect in multiple syndromes including: * Catel–Manzke syndrome * Bloom syndrome * Coffin–Lowry syndrome * Congenital rubella syndrome * Cri du chat syndrome * DiGeorge syndrome * Ehlers–Danlos syndrome * Fetal alcohol syndrome * Hallermann–Streiff syndrome * Hemifacial microsomia (as part of Goldenhar syndrome) * Incontinentia pigmenti * Juvenile idiopathic arthritis * Marfan syndrome * Möbius syndrome * Noonan syndrome * Pierre Robin syndrome * Prader–Willi syndrome * Progeria * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ocular Hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged.Michael L. Bentz: ''Pediatric Plastic Surgery''; Chapter 9 Hypertelorism by Renato Ocampo, Jr., MD/ John A. Persing, MD Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz syndrome. Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular 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. Many genetic conditions ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 5 (human)
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 181 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained. Because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers. One example would be acute myeloid leukemia (AML). Genes Number of genes The following are some of the gene count estimates of human chromosome 5. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene predicti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NSD1
NSD1 (Nuclear receptor binding SET Domain Protein 1) is a transcription coregulator protein that encodes Histone Methyltransferase and is associated with Sotos syndrome and Weaver syndrome Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive cra .... References External links GeneReviews/NCBI/NIH/UW entry on Sotos Syndrome * * {{gene-5-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hematopoiesis
Haematopoiesis (, from Greek , 'blood' and 'to make'; also hematopoiesis in American English; sometimes also h(a)emopoiesis) is the formation of blood cellular components. All cellular blood components are derived from haematopoietic stem cells. In a healthy adult person, approximately – new blood cells are produced daily in order to maintain steady state levels in the peripheral circulation.Semester 4 medical lectures at Uppsala University 2008 by Leif Jansson Process Haematopoietic stem cells (HSCs) Haematopoietic stem cells (HSCs) reside in the medulla of the bone (bone marrow) and have the unique ability to give rise to all of the different mature blood cell types and tissues. HSCs are self-renewing cells: when they differentiate, at least some of their daughter cells remain as HSCs so the pool of stem cells is not depleted. This phenomenon is called asymmetric division. The other daughters of HSCs (myeloid and lymphoid progenitor cells) can follow any of the othe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lymphopoiesis
Lymphopoiesis (lĭm'fō-poi-ē'sĭs) (or lymphocytopoiesis) is the generation of lymphocytes, which are one of the five types of white blood cells (WBCs). It is more formally known as lymphoid hematopoiesis. Disruption in lymphopoiesis can lead to a number of lymphoproliferative disorders, such as the lymphomas and lymphoid leukemias. Terminology Lymphocytes are considered to be of the lymphoid lineage as opposed to other lineages of blood cells such as the myeloid lineage and the erythroid lineage. Nomenclature, the system of naming things properly, is not trivial in this case because although lymphocytes are found in the bloodstream and originate in the bone marrow, they principally belong to the separate lymphatic system which interacts with the blood circulation. Lymphopoiesis is now usually used interchangeably with the term "lymphocytopoiesis" - the making of lymphocytes - but other sources may distinguish between the two, stating that "lymphopoiesis" additionally re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myogenesis
Myogenesis is the formation of skeletal muscular tissue, particularly during embryonic development. Muscle fibers generally form through the fusion of precursor myoblasts into multinucleated fibers called ''myotubes''. In the early development of an embryo, myoblasts can either proliferate, or differentiate into a myotube. What controls this choice in vivo is generally unclear. If placed in cell culture, most myoblasts will proliferate if enough fibroblast growth factor (FGF) or another growth factor is present in the medium surrounding the cells. When the growth factor runs out, the myoblasts cease division and undergo terminal differentiation into myotubes. Myoblast differentiation proceeds in stages. The first stage, involves cell cycle exit and the commencement of expression of certain genes. The second stage of differentiation involves the alignment of the myoblasts with one another. Studies have shown that even rat and chick myoblasts can recognise and align with one ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteogenesis
Osteoblasts (from the Greek combining forms for "bone", ὀστέο-, ''osteo-'' and βλαστάνω, ''blastanō'' "germinate") are cells with a single nucleus that synthesize bone. However, in the process of bone formation, osteoblasts function in groups of connected cells. Individual cells cannot make bone. A group of organized osteoblasts together with the bone made by a unit of cells is usually called the osteon. Osteoblasts are specialized, terminally differentiated products of mesenchymal stem cells. They synthesize dense, crosslinked collagen and specialized proteins in much smaller quantities, including osteocalcin and osteopontin, which compose the organic matrix of bone. In organized groups of disconnected cells, osteoblasts produce hydroxylapatite, the bone mineral, that is deposited in a highly regulated manner, into the organic matrix forming a strong and dense mineralized tissue, the mineralized matrix. The mineralized skeleton is the main support for the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
