Microcephaly
Abnormalities, Multiple
Intellectual Disability
Facies
Lissencephaly
Nijmegen Breakage Syndrome
Dwarfism
Pedigree
Developmental Disabilities
Phenylketonuria, Maternal
Agenesis of Corpus Callosum
Growth Disorders
Centrosome
Optic Atrophy
Nerve Tissue Proteins
Segmental Duplications, Genomic
Chromosome Disorders
Cri-du-Chat Syndrome
Phenotype
Exome
Mandibulofacial Dysostosis
Head
Chromosome Breakage
Centrioles
Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome. (1/414)
An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear. (+info)derriere: a TGF-beta family member required for posterior development in Xenopus. (2/414)
TGF-beta signaling plays a key role in induction of the Xenopus mesoderm and endoderm. Using a yeast-based selection scheme, we isolated derriere, a novel TGF-beta family member that is closely related to Vg1 and that is required for normal mesodermal patterning, particularly in posterior regions of the embryo. Unlike Vg1, derriere is expressed zygotically, with RNA localized to the future endoderm and mesoderm by late blastula, and to the posterior mesoderm by mid-gastrula. The derriere expression pattern appears to be identical to the zygotic expression domain of VegT (Xombi, Brat, Antipodean), and can be activated by VegT as well as fibroblast growth factor (FGF). In turn, derriere activates expression of itself, VegT and eFGF, suggesting that a regulatory loop exists between these genes. derriere is a potent mesoderm and endoderm inducer, acting in a dose-dependent fashion. When misexpressed ventrally, derriere induces a secondary axis lacking a head, an effect that is due to dorsalization of the ventral marginal zone. When misexpressed dorsally, derriere suppresses head formation. derriere can also posteriorize neurectoderm, but appears to do so indirectly. Together, these data suggest that derriere expression is compatible only with posterior fates. In order to assess the in vivo function of derriere, we constructed a dominant interfering Derriere protein (Cm-Derriere), which preferentially blocks Derriere activity relative to that of other TGFbeta family members. Cm-derriere expression in embryos leads to posterior truncation, including defects in blastopore lip formation, gastrulation and neural tube closure. Normal expression of anterior and hindbrain markers is observed; however, paraxial mesodermal gene expression is ablated. This phenotype can be rescued by wild-type derriere and by VegT. Our findings indicate that derriere plays a crucial role in mesodermal patterning and development of posterior regions in Xenopus. (+info)Safety of radiographic imaging during pregnancy. (3/414)
Maternal illness during pregnancy is not uncommon and sometimes requires radiographic imaging for proper diagnosis and treatment. The patient and her physician may be concerned about potential harm to the fetus from radiation exposure. In reality, however, the risks to the developing fetus are quite small. The accepted cumulative dose of ionizing radiation during pregnancy is 5 rad, and no single diagnostic study exceeds this maximum. For example, the amount of exposure to the fetus from a two-view chest x-ray of the mother is only 0.00007 rad. The most sensitive time period for central nervous system teratogenesis is between 10 and 17 weeks of gestation. Nonurgent radiologic testing should be avoided during this time. Rare consequences of prenatal radiation exposure include a slight increase in the incidence of childhood leukemia and, possibly, a very small change in the frequency of genetic mutations. Such exposure is not an indication for pregnancy termination. Appropriate counseling of patients before radiologic studies are performed is critical. (+info)Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? (4/414)
We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed. (+info)Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype. (5/414)
We report a 9 year old girl with microcephaly and self-limiting dilated cardiomyopathy. Additional features include mental retardation, delayed developmental milestones, and minor dysmorphic features. This is the second reported case of this phenotype, which is believed to be a new autosomal recessive syndrome. (+info)The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. (6/414)
Primary microcephaly is a clinical diagnosis made when an individual has a head circumference of greater than 3 standard deviations below the age and sex matched population mean, mental retardation but without other associated malformations and no apparent aetiology. The majority of cases of primary microcephaly exhibit an autosomal recessive mode of inheritance. We now demonstrate the genetic heterogeneity of this condition with the identification of a second primary microcephaly locus (MCPH2) on chromosome 19q13.1-13.2 in two multi-affected consanguineous families. The minimum critical region containing the MCPH2 locus is defined by the polymorphic markers D19S416 and D19S420 spanning a region of approximately 7.6 cM. (+info)Cryptic subtelomeric translocations in the 22q13 deletion syndrome. (7/414)
Cryptic subtelomeric rearrangements are suspected to underlie a substantial portion of terminal chromosomal deletions. We have previously described two children, one with an unbalanced subtelomeric rearrangement resulting in deletion of 22q13-->qter and duplication of 1qter, and a second with an apparently simple 22q13-->qter deletion. We have examined two additional patients with deletions of 22q13-->qter. In one of the new patients presented here, clinical findings were suggestive of the 22q13 deletion syndrome and FISH for 22qter was requested. Chromosome studies suggested an abnormality involving the telomere of one 22q (46,XX,?add(22)(q13. 3)). FISH using Oncor D22S39 and Vysis ARSA probes confirmed a terminal deletion. A multi-telomere FISH assay showed a signal from 19qter on the deleted chromosome 22. Results were confirmed with 19qtel and 22qtel specific probes. The patient is therefore trisomic for 19qter and monosomic for 22qter. The patient's mother was found to have a translocation (19;22)(q13.42;q13.31). We also re-examined chromosomes from two patients previously diagnosed with 22q deletions who were not known to have a rearrangement using the multi-telomere assay. One of these patients was found to have a derivative chromosome 22 (der(22)t(6;22)(p25;q13)). No evidence of rearrangement was detected in the other patient. Thus we have found the 22q13 deletion to be associated with a translocation in three of four patients. This report illustrates the usefulness of examining patients with hypotonia, severe language delay, and mild facial dysmorphism for this syndrome and suggests that most of these deletions may be unbalanced subtelomeric rearrangements. (+info)Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) (8/414)
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin (Tf). Two patients with these symptoms and similar abnormal Tf IEF patterns were analyzed by metabolic labeling of fibroblasts with inverted question mark2-(3)Hmannose. The patients produced a truncated dolichol-linked precursor oligosaccharide with 5 mannose residues, instead of the normal precursor with 9 mannose residues. Addition of 250 microM mannose to the culture medium corrected the size of the truncated oligosaccharide. Microsomes from fibroblasts of these patients were approximately 95% deficient in dolichol-phosphate-mannose (Dol-P-Man) synthase activity, with an apparent K(m) for GDP-Man approximately 6-fold higher than normal. DPM1, the gene coding for the catalytic subunit of Dol-P-Man synthase, was altered in both patients. One patient had a point mutation, C(274)G, causing an R(92)G change in the coding sequence. The other patient also had the C(274)G mutation and a 13-bp deletion that presumably resulted in an unstable transcript. Defects in DPM1 define a new glycosylation disorder, CDG-Ie. (+info)Microcephaly is a medical condition where an individual has a smaller than average head size. The circumference of the head is significantly below the normal range for age and sex. This condition is typically caused by abnormal brain development, which can be due to genetic factors or environmental influences such as infections or exposure to harmful substances during pregnancy.
Microcephaly can be present at birth (congenital) or develop in the first few years of life. People with microcephaly often have intellectual disabilities, delayed development, and other neurological problems. However, the severity of these issues can vary widely, ranging from mild to severe. It is important to note that not all individuals with microcephaly will experience significant impairments or challenges.
'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.
Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.
Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.
The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.
Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.
Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.
Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.
It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.
The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).
Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.
"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.
It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.
Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).
Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.
Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.
Lissencephaly is a rare neurological disorder characterized by the absence or significant reduction of normal folds (gyri) and sulci (grooves) in the cerebral cortex of the brain. The cerebral cortex, which is responsible for higher brain functions such as thinking, learning, and language, usually has a smooth, flat appearance in individuals with lissencephaly. This condition results from abnormal neuronal migration during fetal development, where nerve cells fail to migrate to their proper positions in the brain.
There are several types of lissencephaly, each with distinct genetic causes and associated symptoms. The most common form is Type I (Classic) Lissencephaly, which affects both hemispheres of the brain and is characterized by a smooth brain surface with four bands of shallow grooves. Other forms include Type II (Cobblestone) Lissencephaly, Miller-Dieker Syndrome, and X-linked Lissencephaly with Ambiguous Genitalia (XLAG).
Symptoms of lissencephaly can vary but often include severe intellectual disability, developmental delays, muscle spasticity or hypotonia, seizures, difficulty swallowing, and problems with vision and hearing. The severity of the condition depends on the extent of the brain malformation. Lissencephaly is a lifelong condition, and individuals with this disorder usually require extensive care and support throughout their lives.
Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder characterized by extreme sensitivity to ionizing radiation, progressive microcephaly, short stature, immunodeficiency, and an increased risk of developing malignancies, particularly lymphoid tumors. The syndrome is caused by mutations in the NBN gene, which encodes a protein called nibrin that plays a critical role in DNA repair and maintenance of genomic stability.
Individuals with NBS typically have microcephaly at birth or develop it in early childhood, accompanied by developmental delay, intellectual disability, and characteristic facial features such as a prominent forehead, recessed jaw, and widely spaced eyes. They may also have skin abnormalities, skeletal anomalies, and hearing loss.
Immunodeficiency is a common feature of NBS, with patients often experiencing recurrent infections due to impaired immune function. They may have low levels of immunoglobulins and T-cell lymphopenia, which can increase their susceptibility to infections.
NBS is associated with an increased risk of malignancies, particularly lymphoid tumors such as B-cell non-Hodgkin lymphoma and leukemia. The risk of cancer increases with age, and most patients develop a malignancy by their mid-20s.
The diagnosis of NBS is typically made based on clinical features, genetic testing, and confirmation of biallelic mutations in the NBN gene. Treatment may involve management of infections, immunoglobulin replacement therapy, and chemotherapy or radiation therapy for malignancies. However, these treatments can be challenging due to the increased sensitivity to ionizing radiation and potential toxicity of chemotherapeutic agents.
Overall, NBS is a rare but serious disorder that requires multidisciplinary care from specialists in genetics, immunology, oncology, and other fields.
Micrognathism is a medical term that refers to a condition where the lower jaw (mandible) is abnormally small or underdeveloped. This can result in various dental and skeletal problems, including an improper bite (malocclusion), difficulty speaking, chewing, or swallowing, and sleep apnea. Micrognathism may be congenital or acquired later in life due to trauma, disease, or surgical removal of part of the jaw. Treatment options depend on the severity of the condition and can include orthodontic treatment, surgery, or a combination of both.
Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.
Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.
Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.
It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
Developmental disabilities are a group of conditions that arise in childhood and are characterized by significant impairments in cognitive functioning, physical development, or both. These disabilities can affect various areas of an individual's life, including their ability to learn, communicate, socialize, and take care of themselves.
Examples of developmental disabilities include intellectual disabilities, cerebral palsy, autism spectrum disorder, Down syndrome, and fetal alcohol spectrum disorders. These conditions are typically diagnosed in childhood and can persist throughout an individual's life.
The causes of developmental disabilities are varied and can include genetic factors, environmental influences, and complications during pregnancy or childbirth. In some cases, the exact cause may be unknown.
It is important to note that individuals with developmental disabilities have unique strengths and abilities, as well as challenges. With appropriate support and services, they can lead fulfilling lives and participate actively in their communities.
Phenylketonuria, Maternal is not a medical condition itself but rather a term that refers to the potential effects of maternal phenylketonuria (PKU) on the unborn child. PKU is a genetic disorder characterized by an inability to metabolize the amino acid phenylalanine, leading to its accumulation in the body and causing intellectual disability and other neurological problems if left untreated.
If a woman with PKU becomes pregnant and does not maintain a strict low-phenylalanine diet during pregnancy, the high levels of phenylalanine in her blood can lead to abnormal fetal development. The unborn child may develop congenital heart defects, microcephaly (abnormally small head), intrauterine growth retardation, and intellectual disability. This is known as maternal PKU syndrome or fetal PKU.
Therefore, it's crucial for women with PKU who are planning to become pregnant or are already pregnant to adhere strictly to a low-phenylalanine diet and monitor their blood phenylalanine levels regularly to minimize the risk of maternal PKU syndrome.
Agenesis of the corpus callosum is a birth defect in which the corpus callosum, the part of the brain that connects the two hemispheres and allows them to communicate, fails to develop normally during fetal development. In cases of agenesis of the corpus callosum, the corpus callosum is partially or completely absent.
This condition can vary in severity and may be associated with other brain abnormalities. Some individuals with agenesis of the corpus callosum may have normal intelligence and few symptoms, while others may have intellectual disability, developmental delays, seizures, vision problems, and difficulties with movement and coordination. The exact cause of agenesis of the corpus callosum is not always known, but it can be caused by genetic factors or exposure to certain medications or environmental toxins during pregnancy.
Growth disorders are medical conditions that affect a person's growth and development, leading to shorter or taller stature than expected for their age, sex, and ethnic group. These disorders can be caused by various factors, including genetic abnormalities, hormonal imbalances, chronic illnesses, malnutrition, and psychosocial issues.
There are two main types of growth disorders:
1. Short stature: This refers to a height that is significantly below average for a person's age, sex, and ethnic group. Short stature can be caused by various factors, including genetic conditions such as Turner syndrome or dwarfism, hormonal deficiencies, chronic illnesses, malnutrition, and psychosocial issues.
2. Tall stature: This refers to a height that is significantly above average for a person's age, sex, and ethnic group. Tall stature can be caused by various factors, including genetic conditions such as Marfan syndrome or Klinefelter syndrome, hormonal imbalances, and certain medical conditions like acromegaly.
Growth disorders can have significant impacts on a person's physical, emotional, and social well-being. Therefore, it is essential to diagnose and manage these conditions early to optimize growth and development and improve overall quality of life. Treatment options for growth disorders may include medication, nutrition therapy, surgery, or a combination of these approaches.
A centrosome is a microtubule-organizing center found in animal cells. It consists of two barrel-shaped structures called centrioles, which are surrounded by a protein matrix called the pericentriolar material. The centrosome plays a crucial role in organizing the microtubules that form the cell's cytoskeleton and help to shape the cell, as well as in separating the chromosomes during cell division.
During mitosis, the two centrioles of the centrosome separate and move to opposite poles of the cell, where they nucleate the formation of the spindle fibers that pull the chromosomes apart. The centrosome also helps to ensure that the genetic material is equally distributed between the two resulting daughter cells.
It's worth noting that while centrioles are present in many animal cells, they are not always present in all types of cells. For example, plant cells do not have centrioles or centrosomes, and instead rely on other mechanisms to organize their microtubules.
Optic atrophy is a medical term that refers to the degeneration and shrinkage (atrophy) of the optic nerve, which transmits visual information from the eye to the brain. This condition can result in various vision abnormalities, including loss of visual acuity, color vision deficiencies, and peripheral vision loss.
Optic atrophy can occur due to a variety of causes, such as:
* Traumatic injuries to the eye or optic nerve
* Glaucoma
* Optic neuritis (inflammation of the optic nerve)
* Ischemic optic neuropathy (reduced blood flow to the optic nerve)
* Compression or swelling of the optic nerve
* Hereditary or congenital conditions affecting the optic nerve
* Toxins and certain medications that can damage the optic nerve.
The diagnosis of optic atrophy typically involves a comprehensive eye examination, including visual acuity testing, refraction assessment, slit-lamp examination, and dilated funduscopic examination to evaluate the health of the optic nerve. In some cases, additional diagnostic tests such as visual field testing, optical coherence tomography (OCT), or magnetic resonance imaging (MRI) may be necessary to confirm the diagnosis and determine the underlying cause.
There is no specific treatment for optic atrophy, but addressing the underlying cause can help prevent further damage to the optic nerve. In some cases, vision rehabilitation may be recommended to help patients adapt to their visual impairment.
Nerve tissue proteins are specialized proteins found in the nervous system that provide structural and functional support to nerve cells, also known as neurons. These proteins include:
1. Neurofilaments: These are type IV intermediate filaments that provide structural support to neurons and help maintain their shape and size. They are composed of three subunits - NFL (light), NFM (medium), and NFH (heavy).
2. Neuronal Cytoskeletal Proteins: These include tubulins, actins, and spectrins that provide structural support to the neuronal cytoskeleton and help maintain its integrity.
3. Neurotransmitter Receptors: These are specialized proteins located on the postsynaptic membrane of neurons that bind neurotransmitters released by presynaptic neurons, triggering a response in the target cell.
4. Ion Channels: These are transmembrane proteins that regulate the flow of ions across the neuronal membrane and play a crucial role in generating and transmitting electrical signals in neurons.
5. Signaling Proteins: These include enzymes, receptors, and adaptor proteins that mediate intracellular signaling pathways involved in neuronal development, differentiation, survival, and death.
6. Adhesion Proteins: These are cell surface proteins that mediate cell-cell and cell-matrix interactions, playing a crucial role in the formation and maintenance of neural circuits.
7. Extracellular Matrix Proteins: These include proteoglycans, laminins, and collagens that provide structural support to nerve tissue and regulate neuronal migration, differentiation, and survival.
Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.
Segmental duplications, genomic (also known as copy number variants or CNVs) refer to stretches of DNA that are present in two or more copies in the same individual's genome. These segments are usually larger than 1 kilobase (kb) in size and share >90% sequence identity with each other. They can arise due to errors during DNA replication, repair, or recombination, leading to the duplication of genetic material.
Segmental duplications can have various effects on genomic function and stability. They can lead to changes in gene dosage, disrupt gene structure and regulation, and create new hybrid genes with novel functions. Additionally, they are often associated with genomic disorders, susceptibility to diseases, and evolutionary innovation. Segmental duplications are a significant source of genetic variation and play an essential role in shaping genomes.
Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.
Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:
1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.
Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.
Cri-du-chat syndrome is a genetic disorder caused by a deletion of part of chromosome 5. The name "Cri-du-chat" means "cry of the cat" in French, and refers to the characteristic high-pitched, distinctive cry of affected infants, which sounds similar to the meow of a cat.
The symptoms of Cri-du-chat syndrome can vary widely in severity, but typically include intellectual disability, developmental delays, speech and language difficulties, low muscle tone, and distinctive facial features such as wide-set eyes, a shortened jaw, and a rounded nose. Affected individuals may also have hearing and vision problems, heart defects, and gastrointestinal issues.
Cri-du-chat syndrome is usually not inherited and occurs randomly during the formation of the egg or sperm. It affects approximately 1 in 20,000 to 50,000 newborns worldwide. There is no cure for Cri-du-chat syndrome, but early intervention with therapies such as speech and language therapy, physical therapy, and occupational therapy can help improve outcomes and quality of life for affected individuals.
A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.
The exome is the part of the genome that contains all the protein-coding regions. It represents less than 2% of the human genome but accounts for about 85% of disease-causing mutations. Exome sequencing, therefore, is a cost-effective and efficient method to identify genetic variants associated with various diseases, including cancer, neurological disorders, and inherited genetic conditions.
Mandibulofacial dysostosis is a genetic disorder that affects the development of the face and jaw. It is characterized by underdevelopment of the lower jaw (mandible) and facial bones, which can result in distinctive facial features such as a small chin, cleft palate, hearing loss, and dental abnormalities. This condition is often associated with other health issues, including respiratory problems and developmental delays. Mandibulofacial dysostosis is typically inherited in an autosomal dominant pattern, which means that only one copy of the altered gene is necessary to cause the disorder. It can also occur spontaneously due to a new genetic mutation. The specific symptoms and severity of mandibulofacial dysostosis can vary widely from person to person.
In medical terms, the "head" is the uppermost part of the human body that contains the brain, skull, face, eyes, nose, mouth, and ears. It is connected to the rest of the body by the neck and is responsible for many vital functions such as sight, hearing, smell, taste, touch, and thought processing. The head also plays a crucial role in maintaining balance, speech, and eating.
Chromosome breakage is a medical term that refers to the breaking or fragmentation of chromosomes, which are thread-like structures located in the nucleus of cells that carry genetic information. Normally, chromosomes are tightly coiled and consist of two strands called chromatids, joined together at a central point called the centromere.
Chromosome breakage can occur spontaneously or be caused by environmental factors such as radiation or chemicals, or inherited genetic disorders. When a chromosome breaks, it can result in various genetic abnormalities, depending on the location and severity of the break.
For instance, if the break occurs in a region containing important genes, it can lead to the loss or alteration of those genes, causing genetic diseases or birth defects. In some cases, the broken ends of the chromosome may rejoin incorrectly, leading to chromosomal rearrangements such as translocations, deletions, or inversions. These rearrangements can also result in genetic disorders or cancer.
Chromosome breakage is commonly observed in individuals with certain inherited genetic conditions, such as Bloom syndrome, Fanconi anemia, and ataxia-telangiectasia, which are characterized by an increased susceptibility to chromosome breakage due to defects in DNA repair mechanisms.
Centrioles are small, cylindrical structures found in the centrosome of animal cells. They play a crucial role in organizing the microtubules that make up the cell's cytoskeleton and are also involved in the formation of the spindle apparatus during cell division. A typical centriole is made up of nine sets of triplet microtubules arranged in a ring-like fashion around a central hub or core.
Centrioles have two main functions:
1. Microtubule Organization: Centrioles serve as the primary site for microtubule nucleation and organization within the cell. They help to form the mitotic spindle during cell division, which is responsible for separating replicated chromosomes into two identical sets that are distributed equally between the two daughter cells.
2. Formation of Cilia and Flagella: In specialized cells, centrioles can also function as basal bodies for the formation of cilia and flagella. These hair-like structures protrude from the cell surface and play a role in cell movement and the movement of extracellular fluids over the cell surface.
It is important to note that plants and fungi do not have centrioles, and their cells use alternative mechanisms for microtubule organization and cell division.
Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.
Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).
Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.
Microcephaly
Achalasia microcephaly
Microcephaly deafness syndrome
Amish lethal microcephaly
Microcephaly lymphoedema chorioretinal dysplasia
Mandibulofacial dysostosis-microcephaly syndrome
Aphalangy-syndactyly-microcephaly syndrome
Microcephaly albinism digital anomalies syndrome
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Kupenda for the Children
Birth defect
Alcohol and pregnancy
Aktion T4
VPS13B
Floating-Harbor syndrome
XK aprosencephaly
Liang Bua
GM1 gangliosidoses
List of OMIM disorder codes
Renata Basto
Microcephalin
Zika virus
Radial glial cell
Pitt-Hopkins syndrome
Dubowitz syndrome
Macdermot-Winter syndrome
Science diplomacy and pandemics
Christianson syndrome
Microcephaly - Wikipedia
Microcephaly: MedlinePlus Medical Encyclopedia
Microcephaly: Background, Anatomy, Pathophysiology
Microcephaly - Symptoms & causes - Mayo Clinic
Many roads lead to primary autosomal recessive microcephaly
Brazil: 270 of 4,180 suspected microcephaly cases confirmed
Microcephaly, Cancer and Autoinflammation | The University of Edinburgh
MedlinePlus - Search Results for: Mild microcephaly
This Week in Zika: Cases of Postnatal Microcephaly | MedPage Today
ICD-10 Code for Microcephaly- Q02- Codify by AAPC
PRIME PubMed | Dominantly inherited syndrome of microcephaly and cleft palate
A to Z: Microcephaly | Rady Children's Hospital
microcephaly | 88.5 WFDD
Cases of microcephaly quadruple in Costa Rica due to Zika
New Screening Approach Reveals Novel Regulators of Microcephaly | The Scientist Magazine®
Florida Reports First Baby Born With Zika-Related Microcephaly | WLRN
Increase in Reported Prevalence of Microcephaly in Infants Born to Women Living in Areas with Confirmed Zika Virus Transmission...
First Baby with Zika-Related Microcephaly Born in Texas | The Texas Tribune
Quiz: Microcephaly - MSD Manual Consumer Version
Zika Virus And Birth Defects: How Babies Contract Microcephaly, Other Severe Complications
Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015 | MMWR
An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe...
NIH Release Discusses Study Findings Showing Exposure To HIV Treatment Efavirenz In Womb Could Increase Risk Of Microcephaly In...
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
JCI - Citations to Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis,...
Zika situation report 18th August 2016: Zika virus, Microcephaly and Guillain-Barré syndrome | PAGNet
Argentine and Brazilian doctors name larvicide as potential cause of microcephaly
ASPM mutations identified in patients with primary microcephaly and seizures | Journal of Medical Genetics
Children with microcephaly13
- After the dropping of atomic bombs "Little Boy" on Hiroshima and "Fat Man" on Nagasaki, several women close to ground zero who had been pregnant at the time gave birth to children with microcephaly. (wikipedia.org)
- Children with microcephaly often have developmental issues. (mayoclinic.org)
- In children with microcephaly, head size measures much smaller than average for the child's age and sex. (mayoclinic.org)
- Some children with microcephaly achieve developmental milestones even though their heads will always be small for their age and sex. (mayoclinic.org)
- Some children with microcephaly will have no symptoms or developmental delays, and will be generally unaffected. (rchsd.org)
- Health authorities reported Wednesday that the births of children with microcephaly in Costa Rica have quadrupled since the appearance of the Zika virus in 2016. (ticotimes.net)
- Children with microcephaly may have delayed speech and motor function development, visual and hearing impairments, or other problems associated with neurological abnormalities. (ticotimes.net)
- Children with microcephaly display a smaller than normal skull size, and some also have a reduced overall body size. (asu.edu)
- In children with microcephaly, head size measures significantly below average, possibly even below the first percentile for your baby's age and sex. (ahdubai.com)
- [ 2 ] Although children with microcephaly and laboratory evidence of Zika virus infection have been described in early infancy, [ 3 ] their subsequent health and development have not been well characterized, constraining planning for the care and support of these children and their families. (medscape.com)
- Nineteen children with microcephaly at birth and laboratory evidence of Zika virus infection were assessed through clinical evaluations, caregiver interviews, and review of medical records. (medscape.com)
- Children with microcephaly and laboratory evidence of Zika virus infection have severe functional limitations and will require specialized care from clinicians and caregivers as they age. (medscape.com)
- The increase in the amount of cases of children with microcephaly in Brazilian Northeast has provoked a state of alert about the proliferation of Zika virus. (bvsalud.org)
Centers for Diseas2
- The spread of Aedes mosquito-borne Zika virus has been implicated in increasing levels of congenital microcephaly by the International Society for Infectious Diseases and the US Centers for Disease Control and Prevention. (wikipedia.org)
- Scientists at the Centers for Disease Control and Prevention (CDC) have concluded, after careful review of existing evidence, that Zika virus is a cause of microcephaly and other severe fetal brain defects. (cdc.gov)
Risk of developing m1
- Zika virus and the risk of developing microcephaly in infants: a systematic review. (medlineplus.gov)
20167
- Why Didn't Zika Cause A Surge In Microcephaly In 2016? (wfdd.org)
- The birth prevalence of microcephaly in Brazil increased sharply during 2015-2016. (cdc.gov)
- By January 2016, a total of 3,530 suspected microcephaly cases had been reported, many of which occurred in infants born to women who lived in or had visited areas where Zika virus transmission was occurring. (cdc.gov)
- Preliminary Report of Microcephaly Potentially Associated with Zika Virus Infection During Pregnancy - Colombia, January-November 2016. (cdc.gov)
- [ 1 ] During 2015-2016, 15 states in Brazil with laboratory-confirmed Zika virus transmission reported an increase in birth prevalence of microcephaly (2.8 cases per 10,000 live births), significantly exceeding prevalence in four states without confirmed transmission (0.6 per 10,000). (medscape.com)
- 12 months who were born with microcephaly and participated in a 2016 case-control investigation. (medscape.com)
- All children in the ZODIAC investigation were born from October 1, 2015 through January 31, 2016, and were reported to the Registro de Eventos de Saúde Pública (RESP)-Microcefalias, Brazil's national microcephaly registry. (medscape.com)
Confirmed microcephaly cases2
- Six of the 270 confirmed microcephaly cases were found to have the virus. (ktvu.com)
- In fact, out of 404 confirmed microcephaly cases in Brazil, only 17 (4.2%) tested positive for the Zika virus. (gmwatch.org)
Treatment for microcephaly3
- Although there's no treatment for microcephaly, early intervention with speech, occupational and other supportive therapies may help enhance a child's development and improve quality of life. (mayoclinic.org)
- There is no treatment for microcephaly that can reverse the problem. (rchsd.org)
- Generally there's no treatment for microcephaly, but early intervention with supportive therapies, such as speech and occupational therapies, may help enhance your child's development and improve quality of life. (ahdubai.com)
Occurrence of microcephaly2
- The increased occurrence of microcephaly associated with cerebral damage characteristically seen in congenital infections in Zika virus-affected areas is suggestive of a possible relationship. (cdc.gov)
- Previous research had found zika infection in the first or second trimester to be most critical for the occurrence of microcephaly owing to issues relating to the neural development of the fetus. (news-medical.net)
Seizures9
- Affected individuals may also have seizures, an unusually small head size ( microcephaly ), or weak muscle tone (hypotonia). (nih.gov)
- Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures has been excluded from the ascertainment of MCPH. (bmj.com)
- Here, we report a pedigree with multiple affected individuals with microcephaly and seizures. (bmj.com)
- To identify the gene responsible for microcephaly and seizures in this pedigree. (bmj.com)
- We thus expand the clinical spectrum of ASPM mutations by showing that they can occur in patients with seizures and that the history of seizures alone should not necessarily preclude the diagnosis of primary microcephaly. (bmj.com)
- Some other health effects that microcephaly is associated with include: vision problems, hearing loss, feeding problems, seizures as well intellectual disability. (onlinecprcertification.net)
- Results In all affected individuals who presented with a neurodevelopmental syndrome with progressive microcephaly, seizures, and intellectual disability we identified biallelic disease-causing variants in Protocadherin-gamma-C4 (PCDHGC4). (uni-koeln.de)
- Your doctor might recommend medication for certain complications of microcephaly, such as seizures or hyperactivity. (ahdubai.com)
- Individuals with microcephaly may also have slow brain development and at times display intellectual disabilities, seizures/epilepsy or other dysmorphic features. (ohsu.edu)
Progressive microcephaly2
- Rett Syndrome ) will cause progressive microcephaly in infants and toddlers. (medscape.com)
- A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. (xenbase.org)
Increase in cases of microcephaly2
- RIO DE JANEIRO (AP) - Brazilian officials still say they believe there's a sharp increase in cases of microcephaly and strongly suspect the Zika virus, which first appeared in the country last year, is to blame. (ktvu.com)
- Given the increase in cases of microcephaly, the Health Ministry and the Costa Rican Social Security System (Caja) are coordinating a strategy whereby all pregnant women from 31 priority cantons receive a preventive kit containing mosquito net, male and female condoms, and repellent. (ticotimes.net)
Developmental4
- Others will have varying degrees of developmental problems depending on what caused the microcephaly. (rchsd.org)
- Babies with microcephaly are born with abnormally small heads and incomplete brain development, which causes them to have developmental delays, intellectual disabilities and problems with movement and balance, as well as with hearing and vision. (wlrn.org)
- We report here the identification of mutations in sterol-C4-methyl oxidase-like gene (SC4MOL) as the cause of an autosomal recessive syndrome in a human patient with psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. (jci.org)
- Scientists use cerebral organoids, which are artificially produced miniature organs that represent embryonic or fetal brains and have many properties similar to them, to help them study developmental disorders like microcephaly. (asu.edu)
Severe8
- And in the diagrams you can see a baby with a normal head size, one that has some degree of microcephaly where the head is smaller, and then a baby with very severe microcephaly. (cdc.gov)
- A child with more-severe microcephaly may also have a sloping forehead. (mayoclinic.org)
- In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. (hindawi.com)
- What is Microcephaly and severe Microcephaly? (onlinecprcertification.net)
- On the other hand, severe microcephaly is more serious and extreme form in which the head of the baby gets even far much smaller than expected. (onlinecprcertification.net)
- Patients have mild to severe microcephaly (up to -15 SD) with psychomotor delays. (arizona.edu)
- While severe microcephaly is readily identifiable at birth , diagnosing less severe cases requires comparison of head circumference (HC) measurement to a growth chart . (bvsalud.org)
- Three indicators of microcephaly were calculated (1) HC more than 2 standard deviations (SD) below the mean, (2) HC more than 3 SD below the mean (referred to as "severe microcephaly ") and (3) HC less than the 3rd percentile for sex and gestational age , using the INTERGROWTH-21st growth standards . (bvsalud.org)
Genes6
- On the other side, a relationship has been found between schizophrenia, deletions of genes and microcephaly. (wikipedia.org)
- Several genes have been designated "MCPH" genes, after microcephalin (MCPH1), based on their role in brain size and primary microcephaly syndromes when mutated. (wikipedia.org)
- Moreover, an association has been established between common genetic variants within known microcephaly genes (such as MCPH1 and CDK5RAP2) and normal variation in brain structure as measured with magnetic resonance imaging (MRI)-i.e., primarily brain cortical surface area and total brain volume. (wikipedia.org)
- The researchers recently trialed their approach, dubbed CRISPR-LIneage tracing at Cellular resolution in Heterogeneous Tissue (CRISPR-LICHT), in a screen for genes linked to microcephaly, a condition in which a baby's head is smaller than expected. (the-scientist.com)
- Primary autosomal recessive microcephaly may involve a defect in one or more of at least four genes. (msdmanuals.com)
- This sequencing test assess genes that associates with syndromes where microcephaly is a clinical feature, these include Rett syndrome, Angelman syndrome, autosomal recessive primary microcephaly. (ohsu.edu)
Baby born with microcephaly3
- The Florida Department of Health (FDH) confirmed the first case of a baby born with microcephaly in the state after the mother contracted the Zika virus. (wlrn.org)
- A baby born with microcephaly in Harris County is the first Zika-affected infant in Texas, the Texas Department of State Health Services announced Wednesday. (texastribune.org)
- Peter Hotez, dean of the National School of Tropical Medicine at Baylor University, predicted that the baby born with microcephaly in Harris County represents the start of a wave of such births in Texas, as pregnant women who contracted the virus in Latin America deliver children with an elevated risk of birth defects. (texastribune.org)
Infants born with microcephaly2
- By September, reports of an increase in the number of infants born with microcephaly in Zika virus-affected areas began to emerge, and Zika virus RNA was identified in the amniotic fluid of two women whose fetuses had been found to have microcephaly by prenatal ultrasound. (cdc.gov)
- An increase in the prevalence of infants born with microcephaly has been reported in Brazil since October 2015, in association with clusters of febrile rash illness in pregnant women. (cdc.gov)
MCPH4
- Heterozygotes may have mild microcephaly (2-3 SD below the mean) but do not have other clinical findings associated with ASPM -MCPH. (nih.gov)
- Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1-6), with MCPH5, caused by ASPM mutation, being the most common. (bmj.com)
- Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that results from hypoplasia of the cerebral cortex. (preventiongenetics.com)
- In MCPH patients, microcephaly is usually detectable by the 32nd week of gestation and is apparent at birth (Woods et al. (preventiongenetics.com)
Prevalence5
- This analysis of 574 cases of microcephaly, detected through a newly established ad hoc microcephaly surveillance system, identified temporal and geospatial evidence linking the occurrence of febrile rash illness consistent with Zika virus disease during the first trimester of pregnancy with the increased birth prevalence of microcephaly. (cdc.gov)
- The prevalence of microcephaly in 15 states with laboratory-confirmed Zika virus transmission (2.8 cases per 10,000 live births) significantly exceeded that in four states without confirmed Zika virus transmission (0.6 per 10,000). (cdc.gov)
- The suggested link between maternal exposure to Zika virus infection during the first trimester of pregnancy and the increased birth prevalence of microcephaly provide additional evidence for congenital infection with Zika virus. (cdc.gov)
- We examine measured values of HC and digit preference in those values, and, by extension, the prevalence of microcephaly at birth in two data sources a research study in Honduras and routine surveillance data in Uruguay . (bvsalud.org)
- When microcephaly prevalence needs to be carefully analyzed, such as during the Zika epidemic , researchers may need to interpret HC data with caution. (bvsalud.org)
Abnormally small3
- Microcephaly (my-kro-SEF-ah-lee) is a rare condition in which a child's brain does not fully develop, resulting in an abnormally small head size. (rchsd.org)
- As the Zika epidemic " spreads explosively " around the world, pregnant travelers have been put on pause due to the virus's suspected association with microcephaly, the congenital condition in which a baby's head is abnormally small. (ecowatch.com)
- One such disorder is microcephaly, a condition in which brain size and the number of neurons in the brain are abnormally small. (asu.edu)
Caused by the Zika virus1
- NEW YORK (FOX 5 NY) - The NYC Health Dept. announced Friday the first case of microcephaly in a baby caused by the Zika virus. (fox5ny.com)
Lead to microcephaly3
- Microcephaly has recently gained notoriety in the popular press because of its association with the Zika virus, one of many viruses that may lead to microcephaly by first damaging the brain. (medscape.com)
- Maternal deprivation problems can also lead to microcephaly (e.g., folate deficiency, malnutrition, and hypothyroidism). (medscape.com)
- Disruptive injuries such as traumatic brain injury, hemorrhagic and ischemic stroke, and hypoxic-ischemic encephalopathy can also lead to microcephaly. (medscape.com)
Case of microcephaly1
- In Columbia, where there is a large outbreak of Zika Virus, not a single case of microcephaly has occurred in the pregnant women with the disease. (opensourcetruth.com)
Child has microcephaly2
- Learning your child has microcephaly can raise questions about future pregnancies. (mayoclinic.org)
- To determine whether your child has microcephaly, your doctor likely will take a thorough prenatal, birth and family history and do a physical exam. (ahdubai.com)
Result in microcephaly3
- Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. (wikipedia.org)
- External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infections, can also result in microcephaly. (wikipedia.org)
- Down syndrome and other conditions may result in microcephaly. (mayoclinic.org)
Individuals with microcephaly1
- In general, life expectancy for individuals with microcephaly is reduced, and the prognosis for normal brain function is poor. (wikipedia.org)
Babies9
- State birth defects tracking systems have estimated that microcephaly ranges from 2 babies per 10,000 live births to about 12 babies per 10,000 live births in the Unites States. (medscape.com)
- And the health system is ill-equipped to detect or care for babies born with microcephaly. (wfdd.org)
- A recent study estimated that babies born to women who contracted Zika in their first trimester of pregnancy have a 1 to 13 percent risk of microcephaly. (texastribune.org)
- Researchers in Brazil affiliated with the State University of Campinas (UNICAMP), D'Or Institute and the Federal University of Rio de Janeiro (UFRJ) have identified molecular processes that may help explain microcephaly in babies born to mothers infected by zika virus. (fapesp.br)
- Nine of these babies had microcephaly while the other two had an enlarged head circumference. (onlinecprcertification.net)
- Microcephaly is a birth defect where a baby's head is smaller than expected when compared to babies of the same sex and age. (mythandmystery.com)
- Brazil is now considered the epicenter of the Zika outbreak, which coincides with at least 4,000 reports of babies born with microcephaly just since October. (mythandmystery.com)
- There have been reports of a serious birth defect of the brain called microcephaly (a birth defect in which the size of a baby's head is smaller than expected for age and sex) in babies of mothers who were infected with Zika virus while pregnant. (cdc.gov)
- Multiple respondents reported hearing that Zika virus is transmitted by mosquitoes and causes microcephaly in babies. (cdc.gov)
Brazil9
- The WHO noted that 69 countries around the world have cases of Zika virus infection, with 2,100 confirmed cases of microcephaly in Brazil alone. (medpagetoday.com)
- Currently, Brazil is still reporting 150-200 cases of suspected microcephaly per month. (medpagetoday.com)
- The Brazil Ministry of Health developed a case definition for Zika virus-related microcephaly (head circumference ≥2 standard deviations [SD] below the mean for sex and gestational age at birth). (cdc.gov)
- The Brazil Ministry of Health (MoH) established a task force to investigate the possible association of microcephaly with Zika virus infection during pregnancy and a registry for incident microcephaly cases (head circumference ≥2 standard deviations [SD] below the mean for sex and gestational age at birth) and pregnancy outcomes among women suspected to have had Zika virus infection during pregnancy. (cdc.gov)
- Widespread transmission of Zika virus by Aedes mosquitoes has been recognized in Brazil since late 2014, and in October 2015, an increase in the number of reported cases of microcephaly was reported to the Brazil Ministry of Health. (cdc.gov)
- Based on the peak number of reported cases of microcephaly, and assuming an average estimated pregnancy duration of 38 weeks in Brazil ( 1 ), the first trimester of pregnancy coincided with reports of cases of febrile rash illness compatible with Zika virus disease in pregnant women in Bahia, Paraíba, and Pernambuco states, supporting an association between Zika virus infection during early pregnancy and the occurrence of microcephaly. (cdc.gov)
- A report from the Argentine doctors' organisation, Physicians in the Crop-Sprayed Towns,[1] challenges the theory that the Zika virus epidemic in Brazil is the sole cause of the increase in the birth defect microcephaly among newborns. (gmwatch.org)
- Pernambuco, the first state to detect the problem, has roughly 35 percent of the total microcephaly cases across Brazil. (ecowatch.com)
- The Brazilian MOH, the State Health Secretariat of Paraíba, and CDC collaborated on a follow-up investigation of the health and development of children in northeastern Brazil who were reported to national surveillance with microcephaly at birth. (medscape.com)
Postnatal2
- Similar studies for postnatal onset microcephaly could not be found and are not mentioned in the American Academy of Neurology's (AAN) Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review). (medscape.com)
- Despite being born without evidence of microcephaly at birth, 13 infants with congenital Zika virus infection went on to develop postnatal microcephaly, according to an international group of researchers in Morbidity and Mortality Weekly Report . (medpagetoday.com)
Zika Virus Infection4
- Further studies are needed to confirm the association of microcephaly with Zika virus infection during pregnancy and to understand any other adverse pregnancy outcomes associated with Zika virus infection. (cdc.gov)
- Additional studies are needed to further elucidate the relationship between Zika virus infection in pregnancy and microcephaly. (cdc.gov)
- The case-control investigation assessed the association of Zika virus infection and microcephaly among children aged 1-7 months, living in Paraíba state. (medscape.com)
- This report describes a subsample of 19 children, aged 19-24 months, who participated in ZODIAC and were born with microcephaly and with laboratory evidence of Zika virus infection. (medscape.com)
Chromosomal1
- Chromosomal disorders (such as Down syndrome ), metabolic disorders, bacterial meningitis , and lack of oxygen all can cause microcephaly. (rchsd.org)
Mutations3
- Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. (wikipedia.org)
- Knoblich and Lancaster found that when when the gene had specific kinds of mutations, the expression of the mutated gene during development caused genetic microcephaly. (asu.edu)
- For a somewhat similar condition but without the sloping forhead see Chorioretinoapathy with Microcephaly 1 ( 251270 ) but resulting from homozygous mutations in TUBGCP6 . (arizona.edu)
Detect4
- So, if you detect microcephaly on a mid-pregnancy scan then that's one thing. (cdc.gov)
- And so, often serial prenatal ultrasounds are needed to detect the development of microcephaly in utero . (cdc.gov)
- Chances are your health care provider will detect microcephaly at your baby's birth or at a regular well-baby checkup. (mayoclinic.org)
- Training and use of insertion tapes had little effect on digit preference, nor were overall HC curves sufficient to detect an increase in microcephaly during the Zika epidemic in Honduras . (bvsalud.org)
Diagnosis3
- Microcephaly is actually a clinical finding it's not a diagnosis by itself. (cdc.gov)
- Retrospective case-series METHODS: Twelve patients (ten families) with a diagnosis of FEVR and microcephaly were ascertained from pediatric genetic eye clinics and underwent full clinical assessment including retinal imaging. (ed.ac.uk)
- Prenatally, the diagnosis of microcephaly sometimes is made with ultrasonography done in the late second or early third trimester. (msdmanuals.com)
Infection3
- Acquired microcephaly develops after birth due to a delivery complication or a post-natal insult, such as trauma or infection. (cdc.gov)
- They said that while infants have been born with congenital Zika infection and no microcephaly at birth, this was the first series of infants who developed microcephaly after birth. (medpagetoday.com)
- Because of the possible association between Zika infection and microcephaly, pregnant women should strictly follow steps to prevent mosquito bites . (cdc.gov)
Virus11
- A study published in The New England Journal of Medicine has documented a case in which they found evidence of the Zika virus in the brain of a fetus that displayed the morphology of microcephaly. (wikipedia.org)
- I will speak a little bit about Zika virus in relation to microcephaly, but only a little bit. (cdc.gov)
- Becoming infected with the Zika virus while pregnant can also cause microcephaly. (medlineplus.gov)
- A task force and registry were established to investigate Zika virus-related cases of microcephaly and to describe the clinical characteristics of cases. (cdc.gov)
- The CDC has confirmed that the Zika virus is a cause of microcephaly. (medicaldaily.com)
- While the link between the mosquito-borne virus and microcephaly has yet to be scientifically proven, Argentinian and Brazilian doctors have suggested an alternate culprit: pesticides. (ecowatch.com)
- The virus has been linked to microcephaly, but the theory has not been scientifically confirmed. (ecowatch.com)
- Researchers under the leadership of Dr. Amicar Tanuri published a report in JAMA Neurology in which they said microcephaly is just but one of the many effects of the Zika virus . (onlinecprcertification.net)
- Health officials say that this new discovery that Zika virus does not just cause microcephaly is an interesting twist to what has always been known. (onlinecprcertification.net)
- In November 2015, the Brazilian Ministry of Health (MOH) declared the Zika virus outbreak a public health emergency after an increase in microcephaly cases was reported in the northeast region of the country. (medscape.com)
- Worldwide recognition of the Zika virus outbreak in the Americas was triggered by an unexplained increase in the frequency of microcephaly . (bvsalud.org)
20171
- http://www.mayoclinic.org/ diseases-conditions/microcephaly/basics/definition/con-20034823 (Accessed May 12, 2017). (asu.edu)
Newborns1
- [ 5 ] Two large population-based studies have found similar incidences of microcephaly in newborns: 0.56% and 0.54%, respectively. (medscape.com)
Pregnant1
- Microcephaly was present in 7 children from a group of 11 pregnant women at 11-17 weeks of gestation who survived the blast at less than 1.2 km (0.75 mi) from ground zero. (wikipedia.org)
Standard deviations5
- Microcephaly is broadly defined as a small head size, typically greater than two standard deviations below normal, as measured via occipital frontal circumference, a method by which a tape measure is used to assess the circumference encompassing the occiput and frontal bones (forehead). (medscape.com)
- In SINASC, microcephaly is defined as a head circumference ≥3 standard deviations (SDs) below the mean for age and sex. (cdc.gov)
- Microcephaly is a neurological disorder in which the circumference of the head is at least three standard deviations smaller than average for the person's age and sex. (wikidoc.org)
- Microcephaly is a head circumference 2 standard deviations below the mean for age. (msdmanuals.com)
- Microcephaly is defined by a patient's head circumference dropping below two standard deviations relative to normal children of the same age. (ohsu.edu)
Complications1
- Except for surgery for craniosynostosis, there's generally no treatment that will enlarge your child's head or reverse complications of microcephaly. (ahdubai.com)
Birth10
- Microcephaly may be present at birth or it may develop in the first few years of life. (wikipedia.org)
- Congenital microcephaly is present either prenatally or at the time of birth or delivery. (cdc.gov)
- There are other birth defects that can result in a small head size, or microcephaly, due to Birth Defects the process of their formation and this is not really considered true microcephaly. (cdc.gov)
- Most often, microcephaly is diagnosed at birth or during routine well-baby exams . (medlineplus.gov)
- Sometimes detected at birth, microcephaly often occurs when there is a problem with brain development in the womb or when the brain stops growing after birth. (mayoclinic.org)
- Microcephaly, which can be passed down through families, can be present at birth or develop during the first 2 years of life. (rchsd.org)
- Microcephaly is a birth defect in which a baby's head is unusually small. (texastribune.org)
- At birth, the patient did not have any dysmorphic features, except for an umbilical hernia and microcephaly. (hindawi.com)
- So the larvicide seems a plausible causative factor in microcephaly - far more so than GM mosquitoes, which some have blamed for the Zika epidemic and thus for the birth defects. (gmwatch.org)
- Sometimes detected at birth, microcephaly usually is the result of the brain developing abnormally in the womb or not growing as it should after birth. (ahdubai.com)
Surveillance4
- This webinar is going to talk about conducting surveillance for microcephaly. (cdc.gov)
- First, I'll talk about what microcephaly is, and the surveillance definition for microcephaly. (cdc.gov)
- Microcephaly surveillance was enhanced in late 2015 by implementing a more sensitive case definition. (cdc.gov)
- Measurement of Head Circumference: Implications for Microcephaly Surveillance in Zika-Affected Areas. (bvsalud.org)
Cerebral3
- Lancaster and her team developed the cerebral organoid as a model to study the genetic basis of conditions such as microcephaly and fetal alcohol syndrome. (asu.edu)
- In 2013, Lancaster, Knoblich, and their team published their paper "Cerebral Organoids Model Human Brain Development and Microcephaly", in which they detail how skin stem cells from a patient with genetic microcephaly developed into neurons when put into a nutrient rich solution. (asu.edu)
- Cerebral Organoids Model Human Brain Development and Microcephaly. (asu.edu)
Neurological2
- Microcephaly serves as an important neurological indication or warning sign, but no uniformity exists in its definition. (wikipedia.org)
- Microcephaly (my-kroh-SEF-uh-lee) is a rare neurological condition in which an infant's head is much smaller than the heads of other children of the same age and sex. (mayoclinic.org)
Primary2
- The primary symptom of microcephaly is having a head size that is much smaller than that of other children of the same age and sex. (mayoclinic.org)
- http://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly (Accessed October 30, 2015). (asu.edu)
Head14
- 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. (wikipedia.org)
- Infants with microcephaly are born with either a normal or reduced head size. (wikipedia.org)
- It's the finding of a Microcephaly small head [when] compared with infants of the same sex and age or the same gestational age. (cdc.gov)
- Microcephaly when the head is small out of proportion to the weight and length, which may be normal for age and sex. (cdc.gov)
- Proportionate microcephaly is when the head size, the weight, and the length all are small for age and sex, but they are proportional to each other. (cdc.gov)
- Relative" microcephaly can be seen in some medical records and it generally refers to a head size that measures within the normal range for age and sex, but it's small out of proportion to the weight and the length of the baby. (cdc.gov)
- In these infants] Sometimes the head will be normal size, sometimes it will be large, but sometimes it can be small as well, and those infants may at some point be referred to as having microcephaly. (cdc.gov)
- Head Size - just microcephaly. (cdc.gov)
- Microcephaly is a condition in which a person's head size is much smaller than that of others of the same age and sex. (medlineplus.gov)
- Microcephaly is a situation in which the head of the baby becomes smaller than normal. (onlinecprcertification.net)
- The baby was diagnosed with microcephaly, or a smaller than normal head, and several other brain problems. (fox5ny.com)
- When an infant's head is smaller than expected, it may be microcephaly - a brain abnormality that often develops in the womb and affects child development. (ahdubai.com)
- In microcephaly, the head is disproportionately small in relation to the rest of the body. (msdmanuals.com)
- For the ZODIAC investigation, microcephaly was defined as head circumference below the third percentile for gestational age and sex, according to INTERGROWTH 21st standards. (medscape.com)
Cases8
- The United States, with about 4 million births a year, has an estimated 2,500 cases of microcephaly a year, said Margaret Honein, a CDC epidemiologist. (ktvu.com)
- But the rate of recorded microcephaly cases was only a fraction of what some experts thought it ought to be. (ktvu.com)
- According to data from the Costa Rican Nutrition and Health Research Institute (INCIENSA), between 2011 and 2015, an average of 30 cases of microcephaly were recorded in national territory. (ticotimes.net)
- A new study unravels the mystery of what caused thousands of cases of microcephaly. (wfdd.org)
- We would expect based on what we know from other countries that there would be more cases" of microcephaly, said Dr. Celeste Philip, Florida Surgeon General, who also was present for the meeting in West Palm Beach. (wlrn.org)
- In September, a sharp increase in the number of reported cases of microcephaly was reported in areas affected by the outbreak. (cdc.gov)
- Abrasco also names Pyriproxyfen as a potential factor in the outbreak of microcephaly cases and calls for suspension of its use. (gmwatch.org)
- As it happens, the northeast state has registered the largest number of cases of microcephaly. (ecowatch.com)
Knoblich1
- Nobody would ever have thought this [gene] had something to do with microcephaly," Knoblich says. (the-scientist.com)
10,0001
- Genetic microcephaly affects one in 30,000 to one in 250,000 infants worldwide and was common in northern Pakistan, where one in 10,000 infants were affected. (asu.edu)
Etiology2
- The etiology of microcephaly can be broadly divided into two categories: premature fusion of cranial sutures (i.e., craniosynostosis) or poor brain growth. (medscape.com)
- Microcephaly in infants and children: Etiology and evaluation. (mayoclinic.org)