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Schinzel–Giedion Syndrome
Schinzel–Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies. Babies born with Schinzel–Giedion syndrome have severe mental retardation, growth retardation (unless fed through a feeding tube) and global developmental delay. Diagnosis Genetic testing for mutations in ''SETBP1'' gene can confirm a diagnosis. Symptoms Patients with this can have hydronephrosis, seizures, visual impairments, or alacrima. Sleep apnea may also be present, Prognosis Most children with condition die before 2 years of age. With it being estimated that 50% will die before 2 years of age. Death during infancy is due to pneumonia, cardiac arrest, tumors, lung hypoplasia, or seizures. The longest documented survivor is 15 years old. Children with this condition who s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiac Arrest
Cardiac arrest is when the heart suddenly and unexpectedly stops beating. It is a medical emergency that, without immediate medical intervention, will result in sudden cardiac death within minutes. Cardiopulmonary resuscitation (CPR) and possibly defibrillation are needed until further treatment can be provided. Cardiac arrest results in a rapid loss of consciousness, and breathing may be abnormal or absent. While cardiac arrest may be caused by heart attack or heart failure, these are not the same, and in 15 to 25% of cases, there is a non-cardiac cause. Some individuals may experience chest pain, shortness of breath, nausea, an elevated heart rate, and a light-headed feeling immediately before entering cardiac arrest. The most common cause of cardiac arrest is an underlying heart problem like coronary artery disease that decreases the amount of oxygenated blood supplying the heart muscle. This, in turn, damages the structure of the muscle, which can alter its function. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SETBP1
SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene. Gene The gene is located on Chromosome 18, specifically on the long (q) arm of the chromosome at position 12.3. This is also written as 18q12.3. Function The SETBP1 gene provides instructions for making a protein known as the SET binding protein 1, which is widely distributed throughout somatic cells. The protein is known to bind to another protein called SET. SETBP1 is a DNA-binding protein that forms part of a group of proteins that act together on histone methylation to make chromatin more accessible and regulate gene expression. There is still more to learn about the overall function of the SETBP1 protein and the effect of SET binding. Clinical significance Gain-of-function mutations in the SETBP1 gene are associated with Schinzel–Giedion syndrome. Loss-of-function mutations in the SETBP1 gene are associated with a SETBP1-related developmental delay called SETBP1 disorder which cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Female
Female (Venus symbol, symbol: ♀) is the sex of an organism that produces the large non-motile ovum, ova (egg cells), the type of gamete (sex cell) that fuses with the Sperm, male gamete during sexual reproduction. A female has larger gametes than a male. Females and males are results of the anisogamous reproduction system, wherein gametes are of different sizes, unlike isogamy where they are the same size. The exact mechanism of female gamete evolution remains unknown. In species that have males and females, Sex-determination system, sex-determination may be based on either sex chromosomes, or environmental conditions. Most female mammals, including female humans, have two X chromosomes. Female characteristics vary between different species with some species having pronounced Secondary sex characteristic, secondary female sex characteristics, such as the presence of pronounced mammary glands in mammals. In humans, the word ''female'' can also be used to refer to gender i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Male
Male (symbol: ♂) is the sex of an organism that produces the gamete (sex cell) known as sperm, which fuses with the larger female gamete, or ovum, in the process of fertilization. A male organism cannot reproduce sexually without access to at least one ovum from a female, but some organisms can reproduce both sexually and asexually. Most male mammals, including male humans, have a Y chromosome, which codes for the production of larger amounts of testosterone to develop male reproductive organs. Not all species share a common sex-determination system. In most animals, including humans, sex is determined genetically; however, species such as ''Cymothoa exigua'' change sex depending on the number of females present in the vicinity. In humans, the word ''male'' can also be used to refer to gender in the social sense of gender role or gender identity. Overview The existence of separate sexes has evolved independently at different times and in different lineages, an example ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet
Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It contains content both for physicians and for patients. Its administrative office is in Paris and its official medical journal is the ''Orphanet Journal of Rare Diseases'' published on their behalf by BioMed Central. As of October 2020, the site provides information about over 6100 rare diseases and 5400 genes. Functions available Orphanet is an online database with the aspiration of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes) Orphanet makes a contribution in making them more visible in health and research information systems. The information is ava ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Organization For Rare Disorders
The National Organization for Rare Disorders (NORD) is an American non-profit organization aiming to provide support for individuals with rare diseases by advocating and funding research, education, and networking among service providers. It was founded in 1983 by Abbey Meyers, along with individuals and rare diseases leaders of rare disease support groups, and it is a 501(c)3 tax exempt organization. History The organization grew out of an "informal coalition" of support groups and families called together in the late 1970s to advocate legislation supporting development of orphan drugs, or drugs for treating rare diseases. They succeeded in getting the United States Congress to pass the Orphan Drug Act (ODA) in early 1983. The initial coalition was led by Abbey Meyers, whose son had Tourette syndrome. Tourette syndrome was estimated by the National Institutes of Health to affect 100,000 people in the United States. Meyers' son was helped by an experimental drug that the manufa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lung Hypoplasia
The lungs are the primary organs of the respiratory system in humans and most other animals, including some snails and a small number of fish. In mammals and most other vertebrates, two lungs are located near the backbone on either side of the heart. Their function in the respiratory system is to extract oxygen from the air and transfer it into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere, in a process of gas exchange. Respiration is driven by different muscular systems in different species. Mammals, reptiles and birds use their different muscles to support and foster breathing. In earlier tetrapods, air was driven into the lungs by the pharyngeal muscles via buccal pumping, a mechanism still seen in amphibians. In humans, the main muscle of respiration that drives breathing is the diaphragm. The lungs also provide airflow that makes vocal sounds including human speech possible. Humans have two lungs, one on the l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
