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Microhydranencephaly
Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly. Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges), and profound intellectual disability. Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that some cases of MHAC are inherited in an autosomal recessive manner via a loss-of-function mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis ... of the gene '' NDE1''. Notable cases * Jaxon Buell was born on August 27, 2014, with 80% of his brain, and most of his skull, missing. He surpassed all doctors' expectations, who did not expect him to live to his second birthday. He died at five years old. Referenc ...
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Jaxon Buell
Jaxon Emmett Buell (August 27, 2014 – April 1, 2020) was an American child known for being born missing about 80% of his brain due to microhydranencephaly, a rare neurological condition combining aspects of microcephaly (abnormally small brain/skull) and hydranencephaly (where parts of the brain are replaced with fluid). After his first birthday, his parents began posting regular updates on a Facebook page titled ''Jaxon Strong'', which gained widespread attention. They also created a GoFundMe to raise money for medical expenses. By late 2015, the Facebook page had received over 200,000 likes and the campaign had raised more than $100,000. Jaxon’s story received coverage from major outlets including CNN, NBC's Today, Inside Edition, and international media. Jaxon surpassed doctors' expectations, as they predicted he would not survive more than a few hours after birth. He went on to live over five years. His condition was discovered when his mother, Brittany Lynn Buell, was ...
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Microcephaly
Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infections, can a ...
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Hydranencephaly
Hydranencephaly is a condition in which the brain's cerebral hemispheres are absent to a great degree and the remaining cranial cavity is filled with cerebrospinal fluid. Hydranencephaly is a type of cephalic disorder. These disorders are congenital conditions that derive from damage to, or abnormal development of, the fetal nervous system in the earliest stages of development in utero. These conditions do not have any definitive identifiable cause factor. Instead, they are generally attributed to a variety of hereditary or genetic conditions, but also by environmental factors such as maternal infection, pharmaceutical intake, or even exposure to high levels of radiation. Hydranencephaly should not be confused with hydrocephalus, which is an accumulation of excess cerebrospinal fluid in the ventricles of the brain. In hemihydranencephaly, only half of the cranial cavity is affected. Signs and symptoms An infant with hydranencephaly may appear normal at birth or may have ...
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Rugae
In anatomy, rugae (: ruga) are a series of ridges produced by folding of the wall of an organ. In general, rugae are a biological feature found in many organisms, serving purposes such as increasing surface area, flexibility, or structural support. Most commonly rugae refers to the gastric rugae of the internal surface of the stomach. For terrestrial gastropods, the rugae often appear as fine, transverse folds or wrinkles on the mantle, back, or sides of the body. They are particularly visible when the animal extends its body or contracts, and may also be interrupted or intersected by other grooves or structures (such as dorsal grooves or keels) . Function A purpose of the gastric rugae is to allow for expansion of the stomach after the consumption of foods and liquids. This expansion increases the volume of the stomach to hold larger amounts of food. The folds also result in greater surface area, allowing the stomach to absorb nutrients more quickly. Location Rugae can a ...
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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 ...
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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 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, ...
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Loss-of-function Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ult ...
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NDE1
Nuclear distribution protein nudE homolog 1 is a protein that in humans is encoded by the ''NDE1'' gene. Clinical significance Mutations In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosi ... in NDE1 can cause severe and often fatal defects in fetal brain development. References Further reading * * * * * * * * * * * * * * * Human proteins {{gene-16-stub ...
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Rare Diseases
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken ...
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Congenital Disorders Of Nervous System
A birth defect 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 birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diagno ...
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