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Rare Genetic Disorders In Babies

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Last Updated: 09 October 2020

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General | Latest Info

Every year, estimate 7. 9 million infants are born with serious birth defects. Although some congenital defects can be controlled and treat, estimate 3. 2 million of these children are disabled for life. Moreover, birth defects are the leading cause of infant mortality in the United States. But where do these defects come from? Although some birth defects are inherit, others are product of harmful environmental factors know as teratogens, and still others are multifactorial, resulting from complex interaction of genetic and environmental influences. However, in approximately half of all birth defect cases, causes are unknown. Genetic causes of birth defects fall into three general categories: chromosomal abnormalities, single - gene defects, and multifactorial influences. Prenatal environment can play a major role in development of defects in all three categories, especially those linked to multifactorial causes. A person's genetic makeup is determined at conception. It is then, during nuclear events of fertilization, that genetic causes of many birth defects are determine. For example, chromosomal abnormalities, or large - scale duplications or deletions of chromosomal segments or entire chromosomes, can become apparent during this period. Many zygotes that carry such abnormalities do not develop into embryos, but among those that are carried to term, trisomy 21, trisomy 13, and trisomy 18 are the most frequent birth defects. Embryos with these three conditions will develop severe disabilities regardless of environmental factors associated with pregnancy. Unlike Down Syndrome patients, who usually have relatively long life span, children with Patau and Edwards syndromes often die soon after birth. Individuals diagnosed with Patau Syndrome suffer from neurological problems, mental and motor deficiencies, and polydactyly, as well as eye, heart, and spine defects. Those born with Edwards Syndrome suffer mental retardation, breathing and feeding difficulties, delayed growth, and malformations of kidneys, intestines, and heart. Thankfully, both of these devastating syndromes are rare. Down Syndrome, on the other hand, is by far the most common chromosomal abnormality, affecting 1 in 800 babies. The risk of having child with this condition increases with maternal age, rising exponentially after woman reaches age 35. For instance, in young mothers, frequency of trisomy 21 is about 1 in 2 000, but this frequency rises to 1 in 100 when a woman is 40 and to 1 in 12 when she is 50 years old. People who have Down Syndrome suffer from moderate to severe mental retardation and a wide variety of health problems, including heart defects, leukemia, and Alzheimer's disease. Severity of these defects varies widely, however, and the majority of people with Down Syndrome live semi - independent lives, with an average life expectancy of 56 in the United States. Aneuploidies such as Down Syndrome can generally be detected by the presence of additional chromosomes or chromosome translocations in karyotype or FISH profile. As opposed to chromosomal abnormalities, single - gene defects are usually inherit. For example, phenylketonuria is a heritable condition caused by malfunction of the PAH enzyme that breaks down amino acid phenylalanine.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

What are rare birth defects?

Many birth defects can't be prevent, but women can do some things before and during pregnancy to help lower the chances of having a baby with a birth defect. Make sure their vaccinations are up to date, make sure they don't have any sexually transmitted diseases, get daily recommended dose of folic acid before trying to conceive, avoid unnecessary medicines and talk to their doctor about medicines they are taking if there's family history of birth defects or woman is part of high - risk group, she should consider meeting with genetic counselor to determine her baby's risk. During pregnancy, it's important to take prenatal vitamins and eat a healthy diet in addition to taking the following precautions: don't smoke and avoid secondhand smoke, don't drink alcohol, avoid all illicit drugs, get exercise and plenty of rest, get early and regular prenatal care. By following these pregnancy precautions, women can help reduce their babies ' risk of birth defects.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Signs & Symptoms

Symptoms of following disorders may resemble those of CHILD Syndrome. Comparisons may be useful for differential diagnosis: Conradi - Hunermann Syndrome is a form of Chondrodysplasia Punctata. It is a rare inherited disorder affecting infants and young children. This disorder is characterized by mild to moderate growth deficiencies including shortened neck and slow growth of arms or legs. Unusual facial characteristics, large skin pores and sparse hair that tends to be coarse may also occur. Ichthyoses or Disorders of Cornification are general terms describing group of scaly skin disorders. They are characterized by abnormal accumulation of large amounts of dead skin cells in top layer of skin. Conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by defect in metabolism of skin cells know as corneocytes or of fat - rich matrix around these cells. Cells can be think of as bricks, while matrixs would be mortar holding these cells together. Other forms of Ichthyosis include Sjogren - Larsson Syndrome, Netherton Syndrome, Ichthyosis Hystrix, Lamellar Ichthyosis, Refsum Syndrome, Darier Disease, Chanarin - Dorfman Syndrome, and Epidermolytic Hyperkeratosis. Choose the appropriate name as your search term for more information on that disorder in the Rare Disease Database.


Causes

Child syndrome is a hereditary disorder transmitted as X - link dominant trait. The faulty gene is on the long arm of the X chromosome. Protein / enzyme product cod by gene has been identified as NSDHL and governs essential step in biosynthesis of cholesterol. Chromosomes, which are present in the nucleus of human cells, carry genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbed from 1 through 22 and sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated p and a long arm designated q. Chromosomes are further subbed - divided into many bands that are number. For example, chromosome Xq28 refers to band 28 on the long arm of the X - chromosome. Numbered bands specify the location of thousands of genes that are present on each chromosome. Genetic diseases are determined by combination of genes for particular traits which are on chromosomes received from father and mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of disease. Abnormal genes can be inherited from either parent, or can be the result of new mutation in the affected individual. The risk of passing abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting CHILD. X - link dominant disorders are caused by abnormal genes on the X chromosome, but in these rare conditions, females with abnormal genes are affected by disease. Males with abnormal genes are more severely affected than females, and many of these males do not survive.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Causes

Pitt - Hopkins syndrome is caused by an unexpected change in the TCF4 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of gene occurs, protein product may be faulty, inefficient, absent or overproduce. Depending upon the functions of particular protein, this can affect many organ systems of the body, including the brain. The Tcf4 gene creates a protein that is a transcription factor. This protein has an important role in various developmental processes of the body. It is highly expressed early during human development and is found throughout the central nervous system. In cases where mutation in TCF4 is disease causing, Pitt - Hopkins syndrome almost always occurs as new mutation, which means that in nearly all cases, gene mutation has occurred at the time of formation of egg or sperm for that child only, and no other family member will be affect. Disorder is usually not inherited from or carried by healthy parent.S If mutation were to be passed on from affected individual to child, in most instances this would occur in an autosomal dominant manner. Genetic diseases are determined by a combination of genes for particular traits that are on chromosomes received from father and mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of disease. Abnormal genes can be inherited from either parent or can be the result of new mutation in the affected individual. The risk of passing abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. There are several instances in which unaffected parent has more than one child with Pitt - Hopkins syndrome. This extremely rare event occurs because of germline mosaicism. In germline mosaicism, one parent has some reproductive cells in ovaries or testes that have TCF4 gene mutation. Other cells in parents ' body do not have mutation, so these parents are unaffected but can pass altered genes to their children. Because of this possibility, we estimate parents of children with Pitt - Hopkins syndrome have about 1 - 2% chance of having another affected child, even if parents test negative for mutation in their blood. Investigators have determined that the TCF4 gene is located on the long arm of chromosome 18. Chromosomes, which are present in the nucleus of human cells, carry genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbed from 1 through 22 and sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated p and a long arm designated q. Chromosomes are further subbed - divided into many bands that are number. For example, chromosome 18q21. 2 refers to band 21. 2 on the long arm of chromosome 18.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Affected Populations

Baseline birth prevalence estimates provide assessment of underlying prevalence in the population in the absence of interventions. However, when estimating actual birth prevalence, potential effects of development and expansion of genetic services should be taken into account. Genetic services can provide risk identification and counselling prior to pregnancy, with potential impact on couples ' reproductive choices, including prenatal diagnosis for at - risk pregnancies when this is feasible, and the option of termination of pregnancy where this is available and culturally acceptable. Risk identification may take place prospectively prior to the affected birth or retrospectively after diagnosis of the affected child. Genetic services encompass diagnostic, therapeutic and counselling services for management of individuals and families affected by genetic disorder. Information regarding the proportion of the population with access to specialist diagnostic and therapeutic services is required to calculate actual birth prevalence from total baseline birth prevalence. Data on access to these services is not routinely available; we have therefore developed a method to estimate access to specialist services. Even in settings with high levels of access to specialist services, including genetic testing, access to TOP for diagnosed affected pregnancies is dependent on legal status, national policy and local clinical practice of TOP for fetal disorders in the country. For countries with no observational data, it is assumed that genetic counselling and prenatal diagnosis will be incorporated into specialist health services as they develop and that these services will only be available to a proportion of those accessing health care. In addition, it is assumed that only women in countries where TOP for fetal anomaly is legal, or there is document widespread practice, will be able to access prenatal diagnosis with the option of TOP. The maximum possible percentage of pregnancies terminated is calculate, based on the proportion of women estimated to have access to prenatal diagnosis, legal status of TOP in country, and the assumption that all women diagnosed with affected pregnancy and with access to TOP will terminate their pregnancy. See third paper in this series for full details. Prospective risk identification depends on the ability to detect carriers before they have any affected children, but until recently, this has been very limited because the diversity of gene variants underlying most single gene disorders make DNA - base carrier screening unrealistic. Carrier screening is therefore currently limited to common disorders detectable by assay of protein end - product. At present, mutation - specific DNA - base screening is available only for Cystic Fibrosis and some disorders that are particularly common in specific population groups, eg French Canadians and Ashkenazi Jews. Surveillance of existing screening programmes shows that prospective carrier screening with option of prenatal diagnosis can lead to an over 90% fall in affected birth prevalence. Extend family studies have been used to assess risk of dominant and X - link Disorders prior to birth of affected child.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Related Disorders

Symptoms of following disorders can be similar to those of Pitt - Hopkins syndrome. Comparisons may be useful for differential diagnosis. Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements; tremulousness with jerky movements of arms and legs and distinct behavioral pattern characterized by happy disposition and unprovoked episodes of laughter and smiling. Although those with syndrome may be unable to speak, many gradually learn to communicate through other means, such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional common symptoms include seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features, but most facial features reflect normal parental traits. Angelman syndrome is caused by deletion or abnormal expression of UBE3A gene. Mowat - Wilson syndrome is a rare genetic disorder that may be apparent at birth or later in childhood. Mws is characterized by intellectual disability, absent speech, distinctive facial features and seizures. This disorder is more likely to have congenital anomalies including gastrointestinal disease know as Hirschsprung Disease in which narrowing of portion of colon is present, eye defects, heart defects, kidney abnormalities, male genital abnormalities and short stature. Some affected individuals may not be recognized until childhood or adulthood, especially when Hirschsprung Disease is not present. Mws is caused by abnormality in ZEB2 gene that is usually the result of new genetic change in the affected person. Rett syndrome is a progressive neurodevelopmental disorder that almost exclusively affects females. Only in rare cases are males affect. Infants with Rett syndrome generally develop normally for about 7 to 18 months after birth. At this point, they lose previously acquired skills such as purposeful hand movements and the ability to communicate. Additional abnormalities occur, including impaired control of voluntary movements and development of distinctive, uncontrolled hand movements such as hand clapping or rubbing. Some children also have slowing of head growth, affected children often develop autistic - like behaviors, feeding and swallowing difficulties, growth retardation, and seizures. Similar to Pitt - Hopkins syndrome, these individuals can also develop spells of hyperventilation and apnea. Most Rett syndrome cases are caused by identifiable mutations of MECP2 gene on the X chromosome and can present with wide range of disability ranging from mild to severe. Course and severity of Rett syndrome is determined by location, type and severity of MECP2 mutation and process of random X - inactivation. Therefore, two girls of the same age with the same mutation can appear significantly different. Some children with changes in the CNTNAP2 gene or NRX 1 gene have developed similar symptoms to children who have Pitt - Hopkins syndrome, including absent speech and global developmental delays. These disorders are know as CTNAP2 - associated autosomal recessive intellectual disability disorder, and NRX1 - associated autosomal recessive intellectual disability disorder.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Pitt-Hopkins Syndrome

Pitt Hopkins Syndrome is a rare genetic disorder resulting from mutation of TCF4 gene or deletion in the region of 18 chromosome where the TCF4 gene is locate. Tcf4 is a transcription factor, so mutations or deletions in this region disrupt the body's ability to carry out normal nervous system development and function, resulting in Developmental Delay and Intellectual Disability. Pths is inherited through autosomal dominant pattern, which means one copy of altered gene is all that's needed to cause PTHS. However, most cases result from new mutations with no history of disorder in the family. Developmental Delay and Intellectual Disability - Individuals with PTHS have moderate to severe Intellectual Disability. Motor skills, including walking, are generally quite delay. Children with PTHS often have wide - base, unsteady gait. Expressive language is limited or absent, though for some people with PTHS, receptive language skills are relatively intact. Multimodal strategies including gesture, symbol exchange, and voice - output devices enable communication for some affected persons. Breathing Issues - Hyperventilation followed by periods of apnea can be triggered by emotions or fatigue. These breathing anomalies disappear in sleep. Individuals may appear blue in lips or skin, lose consciousness, and develop clubbed fingers and toes due to chronic, decreased levels of oxygen. Epilepsy - Recurring seizures affect about half of people diagnosed with PTHS. Eyes and Vision - Vision problems are common in people with PTHS and may include crossed eyes, and severe near - sightedness. Facial features include a prominent nose with flattened nasal bridge, pronounced double curve of upper lip, wide mouth, full lips, and wide space teeth. Thick and cup shaped ears are note for many people with PTHS. In profile, lower part of the face may extend slightly beyond the upper part of the face. Constipation is a prominent feature of PTHS. Other gastrointestinal issues, including reflux and food allergies, are not uncommon. Affected individuals often have a happy and excitable demeanor with frequent smiling, laughing, and hand flapping. Pths is different from Angelman's Syndrome as both share features of cognitive disability, motor impairment and happy demeanor. Persons with PTHS may also experience behavioral issues including hyperactivity and anxiety. Some meet criteria for Autism spectrum disorder. Currently, there is no known cure for Pitt Hopkins Syndrome and treatment is symptomatic. Affected people often benefit from glasses and assistive communication devices. Symptoms like seizures, hyper breathing and constipation are managed with medication. Physical therapy, hippotherapy, standers and braces are just some modalities used to help individuals build strength in order to lessen physical limitations. Speech, sensory integration and behavioral therapies can also help increase the quality of life for affected individual. The description of this disease is provided courtesy of NIH, and other sources. Information provided on this web site should not be used as a substitute for seeking professional medical diagnosis, treatment or care. You should not rely on any information in these pages to replace consultations with qualified health professionals.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Standard Therapies

Com I ts compelling narrative: parent learns that his or her child has a fatal disease with no cure, and, though not a Scientist, embarks on a quest to find some treatment. Such stories have played out in plotlines of films such as Lorenzos Oil and Extraordinary Measures, on National morning shows and local news segments, and on crowdfunding pages to drum up support for the cause. Parent - lead funding campaigns to develop Gene Therapies for Rare Diseases are especially prevalent, and for good reason. Rather than finding drug that can fill the void left by protein lost to single - Gene disorder, Gene Therapy holds promise of replacing the defective Gene itselfof Cure. Just one of thousands of single - Gene Disorders has FDA - approved Gene Therapy, but through hard work and determination, some parents hope to change that. Some crowdfunding campaigns have been astoundingly successful: theyve raised millions of dollars to fund basic research and, later, clinical trials that have likely saved Childrens lives. Donations can, however, only carry therapy so far before a pharmaceutical company must grab batonan outcome that not guarantee, even when Gene Therapy shows promise in early Clinical Trials. And such Therapies may not be able to turn back clock on damage that has already done, making cinematic happy endings to these stories unlikely. Still, participation in trials gives families some hope of a longer and healthier future for their children, hope denied to parents of kids who do make it in. Gene Therapy Clinical Trials are relatively small in terms of the number of patients who can be enrol. Whenever you design stringent criteria, you know that as a physician you have to ask a number of questions to parents who are desperately looking for treatments for their children, says Alessandra Biffi, Gene Therapy researcher at Dana - Farber Cancer Institute in Boston. This choice, which is very rational, is also very difficult for me. Yet for families raising funds to combat Rare Diseases, any gainwhether, in prolonging the life of one own child, sparing other families the same heartache, or some combination of twocounts. Thanks in part to contacts made through the National Organization for Rare Disorders, scientists spoke with several parents whose children diagnose sparked fundraising efforts to help make Gene Therapies clinical reality.


About Genes

To cure genetic diseases, scientists must first determine which gene or set of genes causes each disease. The Human Genome Project and other international efforts have completed initial work of sequencing and mapping virtually all of 25 000 genes in human cell. This research will provide new strategies to diagnose, treat, cure, and possibly prevent human diseases. Although this information will help scientists determine the genetic basis of many diseases, it will be a long time before diseases can actually be treated through gene therapy. Gene therapy's potential to revolutionize medicine in the future is exciting, and hopes are high for its role in; curing and preventing childhood diseases. One day, it may be possible to treat unborn child for genetic disease even before symptoms appear. Scientists hope that Human Genome mapping will help lead to cures for many diseases and that successful clinical trials will create new opportunities. For now, however, it's wait - and - see situation, calling for cautious optimism.


Causes

Kat6a syndrome is caused by variation in the KAT6A gene. This gene is also known as MOZ or MYST3 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When variation of gene occur, protein product may be faulty, inefficient, absent, or overproduce. Depending upon the functions of particular protein, this can affect many organ systems of the body, including the brain. The KAT6A gene contains instructions for creating protein that is vitally important to the body. These types of enzyme are believed to have multiple jobs in the body. It is classified as a type of histone acetyltransferase. These enzymes modify histones, which are structural proteins that bind to DNA and help to give chromosomes their normal shape. Kat6a enzyme helps to control expression of other genes and activity and expression of other proteins in the body. This enzyme helps to regulate a wide variety of chemical processes in the body. Consequently, this enzyme is involved in various aspects of health and development, and variation in the KAT6A gene can lead to a wide variety of issues. In cases where variation in KAT6A is disease causing, disorder almost always occurs as a new mutation, which means that in nearly all cases, gene mutation has occurred at the time of formation of egg or sperm for that child only, and no other family member will be affect. Disorder is usually not inherited from or carried by healthy parent.S If a person with KAT6A syndrome were to have child, they could pass the altered KAT6A gene on to their children through autosomal dominant inheritance. Genetic diseases are determined by a combination of genes for particular traits that are on chromosomes received from father and mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of disease. Abnormal genes can be inherited from either parent, or can be the result of new mutation in the affected individual. The risk of passing abnormal genes from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.


Diagnosis

Diagnosis of KAT6A syndrome is based upon identification of characteristic symptoms, detailed patient and family history, thorough clinical evaluation and a variety of specialized tests. There are no formal diagnostic criteria established for this disorder. Diagnosis is confirmed through Molecular genetic Testing. Clinical Testing and Workup Molecular genetic Testing can detect disease - causing variations in the KAT6A gene, but is available only as a diagnostic service at specialized laboratories. Doctors will take blood samples of individuals suspected of having KAT6A syndrome and samples will undergo whole exome sequencing. Wes is a Molecular genetic Testing method that examines genes in humans that contain instructions for creating proteins. This is called exome. Wes can detect variations in the KAT6A gene that are known to cause disease, or variations in other genes known to cause symptoms similar to this syndrome. Affected individuals may undergo additional tests to assess the extent of disease. An Advanced imaging technique called magnetic resonance imaging may be recommend. Mri uses magnetic fields and radio waves to produce cross - sectional images of particular organs and bodily tissues. Mri of the brain can reveal degeneration or damage to the brain. An Echocardiogram is a test that uses reflected sound waves to create images of the heart and can reveal structural heart defects sometimes associated with disorder. The eye doctor will conduct thorough, extensive eye examination to look for eye abnormalities that may be associated with KAT6A syndrome. Neurologic examination is important for individuals with symptoms of KAT6A syndrome. Neurologic examinations help identify specific features affecting person. Laboratory tests, neurophysiologic testing, and neuroimaging; routine laboratory studies; and analysis of cerebrospinal fluid may be conducted to help exclude alternate and co - existing diagnoses.


Signs & Symptoms

Although researchers have been able to establish clear syndrome with characteristic or core symptoms, much about KAT6A syndrome is not fully understood. Several factors, including small number of identified cases, lack of large clinical studies, and the possibility of additional genes, environmental factors, or other factors influencing disorder have prevented physicians from developing a complete picture of associated symptoms and prognosis. Potential symptoms associated with variation in KAT6A gene are numerous and highly variable. With genetic disorders, specific types of variation can be associated more often with specific symptoms. This is called genotype - phenotype correlation. Researchers are still trying to determine whether there are any specific genotype - phenotype correlations in KAT6A syndrome. It is important to note that every child is unique and that affected individuals may not have all of the symptoms discussed below. How a disorder affects one child can be very different from how it affects another child. Almost all children with KAT6A syndrome have intellectual disability. Intellectual disability can range from mild to severe. Degree of intellectual disability may be hard to determine at first, because other symptoms may make evaluation difficult. Most children experience delays in reaching developmental milestones like sitting up or crawling. Speech delays are also common, and can be significant. Most children have better receptive language skills, which means that they can understand more information spoken to them than they are able to speak themselves. Some children will improve and may develop normal language skills, but others may remain relatively nonverbal through adulthood. Affected infants may have microcephaly, condition in which circumference of head is smaller than would otherwise be expected based on age and gender. Less often, affected infants have craniosynostosis, which is a general term for improper development of bones of skull, which can result in abnormal head shape in affected individuals. Craniosynostosis refers to premature fusion of fibrous joints between certain bones of the skull. The severity of primary craniosynostosis can vary from one person to another. As affected infants age, they may experience difficulties feeding because of problems with movements of muscles of face. Some children have difficulty swallowing, and there can be a risk of food, liquid or other foreign material accidentally going into their lungs. Infants can have additional symptoms involving gastrointestinal tract, including backflow of contents of the stomach into the esophagus, constipation, and abnormally twisting or rotation of intestines, which can cause pain and bowel obstruction. Some affected individuals have heart defects that are present from birth. These can include atrial and ventricular septal defects. Septal defects are when there is a hole in the membrane that separates two lower chambers of the heart, called ventricles, or in the membrane that separates two upper chambers of the heart, called atria. The size of these holes will determine whether any symptoms are present, and how severe these symptoms may be.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Risk Factors for Genetic Disorders

A Genetic disorder is a disease caused in whole or in part by change in DNA sequence away from normal sequence. Genetic disorders can be caused by mutation in one gene, by mutations in multiple genes, by combination of gene mutations and environmental factors, or by damage to chromosomes. As we unlock secrets of the human genome, we are learning that nearly all diseases have genetic component. Some diseases are caused by mutations that are inherited from parents and are present in individuals at birth, like sickle Cell Disease. Other diseases are caused by acquired mutations in genes or groups of genes that occur during a person's life. Such mutations are not inherited from parent,s but occur either randomly or due to some environmental exposure. These include many cancers, as well as some forms of neurofibromatosis.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Screening Tests

Newborn Screening Tests infants for Heritable Disorders that can threaten the health or well - being of your NEW child. Genetic Disorders include birth defects and inborn errors of metabolism your baby may be born with. Genetic Disorders cannot be cure. They can, however, be treated to reduce their effect on your child throughout his or her life. Newborn Screening can detect many types of Genetic Disorders early, so that treatment is most effective. Genetic counseling is offered to parents of children with Genetic Disorders. A doctor will explain what Genetic Disorders are, how Genetic Testing works, and how to understand results to help plan your child's future.


How Is Newborn Screening Done?

A small blood sample taken by pricking the baby's heel is test. This happens before the baby leaves hospital, usually at 1 or 2 days of age. Talk to your doctor about newborn screening if your baby was not born in hospital. Blood samples should be taken after the first 24 hours of life. Some babies are tested within the first 24 hours, though, because sometimes moms and newborns are discharged within 1 day. If this happen, experts recommend taking repeat sample no more than 1 to 2 weeks later. Some states routinely do two tests on all infants.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Sources

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

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