Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Infant, Newborn, Diseases
Serotyping
Pregnancy
Abnormalities, Multiple
Unfinished feticide: the ethical problems. (1/7)
Dr. Jansen's paper raises three main issues. The one with which he himself is most concerned is the question of which methods of abortion are ethically right, and whether methods which risk the birth of a damaged baby are wrong. But there are two others: first, how the (originally unintended) birth of a live but damaged child alters the moral situation, and secondly, whether the overcoming of sterility by inducing a multiple pregnancy in which some of the fetuses have to be killed in order for any of them to survive is at all morally acceptable. (+info)Unfinished feticide: a legal commentary. (2/7)
Jansen expresses concern as to the legal implications of both selective reduction of pregnancy and unsuccessful attempts at termination of pregnancy using mifepristone. This commentary examines the legality of both procedures and concludes that Jansen is over-optimistic in his belief that neither procedure is likely to fall foul of the criminal laws on induced abortion. By contrast his anxieties about civil liability arising from the subsequent live birth of a damaged infant are, it is suggested, unnecessarily pessimistic. Such an action is most unlikely to succeed if brought by the infant herself and any claim on the part of the mother will normally be dependent on proof of negligence. The commentary focusses on the law in England with relevant references to other common law jurisdictions. (+info)Paternalism versus autonomy: medical opinion and ethical questions in the treatment of defective neonates.(3/7)
(+info)Death by judiciary order.(4/7)
(+info)No right to sue for "wrongful life.(5/7)
(+info)Supplementary annual report of Council, 1982-1983: medical ethics.(6/7)
(+info)One man's burden.(7/7)
(+info)Congenital diseases and abnormalities refer to medical conditions or abnormalities that are present at birth. These conditions can be caused by genetic factors, environmental influences during pregnancy, or a combination of both.
Hereditary diseases and abnormalities, on the other hand, are those that are passed down from parents to offspring through genes. These conditions may not necessarily be present at birth but may develop over time due to the expression of certain genetic traits.
Neonatal diseases and abnormalities refer to medical conditions or abnormalities that occur during the first 28 days of life. These conditions can range from relatively minor issues, such as jaundice, to more severe problems, such as heart defects or infections.
Examples of congenital, hereditary, and neonatal diseases and abnormalities include:
* Congenital heart defects
* Down syndrome (a chromosomal disorder)
* Cleft lip and palate
* Spina bifida (a neural tube defect)
* Hemophilia (a bleeding disorder caused by a genetic mutation)
* Sickle cell disease (a genetic blood disorder)
* Neonatal respiratory distress syndrome (a breathing disorder that affects premature infants)
* Neonatal sepsis (a serious bacterial infection that can occur in newborns).
A "newborn infant" refers to a baby in the first 28 days of life outside of the womb. This period is crucial for growth and development, but also poses unique challenges as the infant's immune system is not fully developed, making them more susceptible to various diseases.
"Newborn diseases" are health conditions that specifically affect newborn infants. These can be categorized into three main types:
1. Congenital disorders: These are conditions that are present at birth and may be inherited or caused by factors such as infection, exposure to harmful substances during pregnancy, or chromosomal abnormalities. Examples include Down syndrome, congenital heart defects, and spina bifida.
2. Infectious diseases: Newborn infants are particularly vulnerable to infections due to their immature immune systems. Common infectious diseases in newborns include sepsis (bloodstream infection), pneumonia, and meningitis. These can be acquired from the mother during pregnancy or childbirth, or from the environment after birth.
3. Developmental disorders: These are conditions that affect the normal growth and development of the newborn infant. Examples include cerebral palsy, intellectual disabilities, and vision or hearing impairments.
It is important to note that many newborn diseases can be prevented or treated with appropriate medical care, including prenatal care, proper hygiene practices, and timely vaccinations. Regular check-ups and monitoring of the newborn's health by a healthcare provider are essential for early detection and management of any potential health issues.
Streptococcus agalactiae, also known as Group B Streptococcus (GBS), is a type of bacteria that commonly colonizes the gastrointestinal and genitourinary tracts of humans. It is Gram-positive, facultatively anaerobic, and forms chains when viewed under the microscope.
While S. agalactiae can be carried asymptomatically by many adults, it can cause serious infections in newborns, pregnant women, elderly individuals, and people with weakened immune systems. In newborns, GBS can lead to sepsis, pneumonia, and meningitis, which can result in long-term health complications or even be fatal if left untreated.
Pregnant women are often screened for GBS colonization during the third trimester of pregnancy, and those who test positive may receive intrapartum antibiotics to reduce the risk of transmission to their newborns during delivery.
Streptococcal infections are a type of infection caused by group A Streptococcus bacteria (Streptococcus pyogenes). These bacteria can cause a variety of illnesses, ranging from mild skin infections to serious and potentially life-threatening conditions such as sepsis, pneumonia, and necrotizing fasciitis (flesh-eating disease).
Some common types of streptococcal infections include:
* Streptococcal pharyngitis (strep throat) - an infection of the throat and tonsils that can cause sore throat, fever, and swollen lymph nodes.
* Impetigo - a highly contagious skin infection that causes sores or blisters on the skin.
* Cellulitis - a bacterial infection of the deeper layers of the skin and underlying tissue that can cause redness, swelling, pain, and warmth in the affected area.
* Scarlet fever - a streptococcal infection that causes a bright red rash on the body, high fever, and sore throat.
* Necrotizing fasciitis - a rare but serious bacterial infection that can cause tissue death and destruction of the muscles and fascia (the tissue that covers the muscles).
Treatment for streptococcal infections typically involves antibiotics to kill the bacteria causing the infection. It is important to seek medical attention if you suspect a streptococcal infection, as prompt treatment can help prevent serious complications.
A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.
Serotyping is a laboratory technique used to classify microorganisms, such as bacteria and viruses, based on the specific antigens or proteins present on their surface. It involves treating the microorganism with different types of antibodies and observing which ones bind to its surface. Each distinct set of antigens corresponds to a specific serotype, allowing for precise identification and characterization of the microorganism. This technique is particularly useful in epidemiology, vaccine development, and infection control.
Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.
'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.
Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.
Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).
Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.
List of MeSH codes
Polyhydramnios
Hereditary sensory and autonomic neuropathy
Macroglossia
Ribosomopathy
Birth defect
Porencephaly
Causes of hearing loss
List of diseases (D)
List of diseases (T)
XXXXY syndrome
Perinatal stroke
Congenital blindness
Strømme syndrome
Calvarial doughnut lesions-bone fragility syndrome
Nemaline myopathy
List of diseases (C)
List of diseases (P)
Genetic testing
List of dog diseases
Hemolytic jaundice
Polycythemia
Teratology
Albert de la Chapelle
NDUFB11
Childhood cataract
Sucking blister
Cerebellar hypoplasia
List of skin conditions
Potter sequence
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Disorders5
- Mild congenital bleeding disorders, especially VWD, should be specifically screened for in patients with mild/moderate symptoms. (lu.se)
- Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. (nih.gov)
- Knowledge of human fetal blood development and how it differs from adult blood is highly relevant to our understanding of congenital blood and immune disorders and childhood leukemia, of which the latter can originate in utero. (lu.se)
- Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. (ctsicn.org)
- Isolated CAVB can also occur due to myocarditis and rare hereditary conditions, such as storage disorders (eg, Hurler syndrome, Hunter syndrome). (medscape.com)
Heart defects4
- CAVB can occur in a structurally normal heart (isolated CAVB) or in association with congenital heart disease (complex CAVB with congenital heart defects). (medscape.com)
- Isolated CAVB occurs in the absence of other congenital heart defects. (medscape.com)
- CAVB can also be seen with certain congenital heart defects, most often complex defects, such as heterotaxy with accompanying AV canal defects and L-transposition of the great arteries. (medscape.com)
- Complex CAVB is associated with congenital heart defects that have structural abnormality of the conduction system. (medscape.com)
Syndrome9
- These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease. (harvard.edu)
- Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. (beds.ac.uk)
- and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations. (wakehealth.edu)
- Spider Lamb Syndrome (SLS) is a semi-lethal congenital disorder, causing severe skeletal abnormalities in sheep. (illinois.edu)
- CAVB occurs in as many as 5% of children born to mothers with anti-Ro antibody, which can be seen with subclinical or clinical maternal lupus erythematosus, maternal Sjögren syndrome, or other maternal autoimmune diseases. (medscape.com)
- [ 6 ] After birth, the children may present with varying degrees of heart block, including CAVB, cardiomyopathy, and other manifestations of neonatal lupus syndrome. (medscape.com)
- Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. (wikipedia.org)
- The most common symptoms of Strømme syndrome are intestinal atresia, eye abnormalities and microcephaly. (wikipedia.org)
- Individuals with Strømme syndrome are typically born with intestinal atresia, in which parts of the intestine are narrow or missing, leading to neonatal bowel obstruction that must be operated on. (wikipedia.org)
Adrenal Hyperplasia Due1
- Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. (nih.gov)
Disorder2
- An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease. (bvsalud.org)
- Idiopathic carpal tarsal osteolysis (ICTO) is a rare congenital disorder that results in the destruction and resorption of bone, leading to severe functional deficits and cosmetic deformities. (utmb.edu)
Fetal7
- Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. (musc.edu)
- Third-degree or complete congenital atrioventricular block (CAVB) is seen either in the fetal life or any time after birth with complete atrioventricular (AV) dissociation and bradycardia and is called congenital heart block to differentiate it from acquired third-degree heart block. (medscape.com)
- It can occur in the fetal life due to maternal disease or due to a congenital heart defect in the fetus and can manifest at any given time before or after birth. (medscape.com)
- In a Japanese retrospective study comprising 52,124 clinical records of pregnancies from a single center, there were 183 anti-Ro/SSA antibody-positive women, in whom titers of anti-Ro/SSA, anti-Ro52, and anti-Ro60 antibodies were independent risk factors for fetal congenital heart block, and the use of corticosteroids before 18 weeks' gestation was an independent protective factor. (medscape.com)
- Congenital complete heart block is an increasingly recognized cause of fetal loss. (medscape.com)
- However, because significant fetal loss is thought to result from this disease, the true incidence of the disease (per conception) may be significantly higher. (medscape.com)
- Structural congenital heart block is also rare, but with a higher proportion of fetal loss. (medscape.com)
Deformities1
- Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. (rush.edu)
MeSH3
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
- Abnormalities, Drug-Induced" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (wakehealth.edu)
- Lysosomal Storage Diseases, Nervous System" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
Connective4
- A group of connective tissue diseases in which skin hangs in loose pendulous folds. (kpresearcherprofiles.org)
- In the early 1970s, the association with maternal connective-tissue disease was recognized. (medscape.com)
- Owing to the high incidence of anti-Ro/SSA and anti-p200 antibodies in female patients with connective tissue diseases, screening for congenital heart block-associated autoantibodies during pregnancy may be a strong consideration. (medscape.com)
- In some cases, since the early 1970s, it has been associated with the presence of maternal connective-tissue disease. (medscape.com)
Respiratory1
- Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al. (beds.ac.uk)
Structural2
- Congenital atrioventricular block (CAVB) with structural heart disease is considered to be caused by failure of the AV conduction system to develop during heart development. (medscape.com)
- This may be a result of increased distance between the AV node and the ventricular conduction tissues, as when associated with structural congenital heart disease or damage related to the passage of maternal autoantibodies. (medscape.com)
Myocarditis1
- Rarely, it can occur as a result of myocarditis, infiltrative disease, or other cardiomyopathy. (medscape.com)
Hurler1
- Hereditary diseases such as Hurler cardiomyopathy and Hunter cardiomyopathy can be associated with CAVB. (medscape.com)
Ataxia1
- An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. (nih.gov)
Mechanisms1
- [ 4 ] This possible role of bilirubin in early protection against oxidative injury, coupled with identification of multiple neonatal mechanisms to preserve and potentiate bilirubin production, has led to speculation about an as-yet-unrecognized beneficial role for bilirubin in the human neonate. (medscape.com)
CAVB1
- The majority of the congenital CAVB cases are autoimmune AV blocks. (medscape.com)
Autosomal Dominant1
- A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. (wakehealth.edu)
Infectious diseases1
- Mediterranean Journal of Hematology and Infectious Diseases , 8 (1), e2016014. (lu.se)
Mutations2
- Either at genomic or at proteomic level, mutations have significant impact on normal gene or protein function, and human diseases could be associated with mutations like nonsynonymous single-nucleotide variations (nsSNVs) on amino acids. (hindawi.com)
- Although data of both gene mutations and PTMs are increasing fast, the proteome-wide analysis on the relationship between damaged PTMs and human diseases is not well studied. (hindawi.com)
Autoimmune disease1
- The mothers may or may not have a diagnosis of an autoimmune disease made at that time. (medscape.com)
Lysosomal4
- This graph shows the total number of publications written about "Lysosomal Storage Diseases" by people in this website by year, and whether "Lysosomal Storage Diseases" was a major or minor topic of these publications. (umassmed.edu)
- Below are the most recent publications written about "Lysosomal Storage Diseases" by people in Profiles. (umassmed.edu)
- Gene therapy in lysosomal diseases]. (umassmed.edu)
- Below are the most recent publications written about "Lysosomal Storage Diseases, Nervous System" by people in Profiles. (childrensmercy.org)
Neoplasms1
- One hundred ninety-six salivary metabolites were mapped into 49 metabolic pathways and connected with human metabolic diseases, central nervous system diseases, and neoplasms. (nih.gov)
Male Urogenital Diseases1
- Male urogenital diseases encompass a variety of conditions affecting the male reproductive and urinary systems. (genet.ca)
Anomaly1
- Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. (bvsalud.org)
CLEFT PALATE1
- This image depicted a close intraoral view of a Nigerian patient's opened mouth, thereby, exposing the patient's dentition, and a defect in this region determined to be a congenital abnormality known as a cleft palate, enabling one to see into the patient's nasal cavity above. (cdc.gov)
SYNDROME6
- A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia. (umassmed.edu)
- For example, Snyder Robinson Syndrome is a new disease SCR that is mapped to the MeSH descriptor Mental Retardation, X-Linked. (bvsalud.org)
- A form of long QT syndrome that is without congenital deafness. (ctsicn.org)
- Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. (wikipedia.org)
- The most common symptoms of Strømme syndrome are intestinal atresia, eye abnormalities and microcephaly. (wikipedia.org)
- Individuals with Strømme syndrome are typically born with intestinal atresia, in which parts of the intestine are narrow or missing, leading to neonatal bowel obstruction that must be operated on. (wikipedia.org)
Deafness1
- Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. (musc.edu)
Deficiency4
- Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. (nih.gov)
- A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. (uams.edu)
- Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. (uams.edu)
- A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. (nih.gov)
Symptoms1
- Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. (nih.gov)
Newborn1
- Diseases existing at birth and often before birth, or that develop during the first month of life ( INFANT, NEWBORN, DISEASES ), regardless of causation. (nih.gov)
Skeletal1
- Less common features include an atrial septal defect, increased muscle tone or skeletal abnormalities. (wikipedia.org)
20211
- and Kay, Christine, "Novel Adeno-Associated Virus-Based Genetic Therapy for Leber Hereditary Optic Neuropathy: A Case-Report" (2021). (hcahealthcare.com)
Chemicals1
- By measuring entire classes of chemicals in archived biospecimens, exposome-wide association studies (EWAS) are being conducted to investigate associations between a myriad of exposures received during life and chronic diseases. (nih.gov)
Defects1
- Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. (wakehealth.edu)
Infections1
- Plasma fractionation is the large‐scale production process used to prepare an important class of protein products that are the only potential therapeutic options to treat, manage or prevent life‐threatening conditions resulting from immunological disorders, congenital plasma protein deficiencies, infections and trauma. (tmu.edu.tw)
Infants3
- Interstage Home Monitoring for Infants With Single Ventricle Heart Disease: Education and Management: A Scientific Statement From the American Heart Association. (childrensmercy.org)
- Parental mobile health adherence to symptom home monitoring for infants with congenital heart disease during the single ventricle interstage period: A concept analysis. (childrensmercy.org)
- This is a potentially lethal form of heart disease in newborns and infants. (uchicago.edu)
Terms1
- Having these terms available for indexing purposes will enhance a more precise retrieval of the rare disease articles and contribute to their identification. (bvsalud.org)
20191
- Första besöket till kliniken gjordes mellan 2010 och 2019, uppföljningsbesök har ännu inte påbörjats men förhoppningen är att en sådan runda kan påbörjas under 2022. (gu.se)
Autosomal3
- Rare, autosomal dominant disease with variable penetrance and several known clinical types. (musc.edu)
- A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. (uchicago.edu)
- This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. (uams.edu)
Rare Diseases2
- 10 The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. (nih.gov)
- Because rare diseases are defined as having a prevalence of fewer than 200,000 affected individuals in the United States they traditionally received less attention and are sometimes called orphan diseases. (bvsalud.org)
Conditions1
- Investigating the genetics and genomics of endocrine system diseases can provide valuable insights into the genetic factors that influence these conditions. (genet.ca)
Cardiac1
- 8 Department of Pediatric Cardiac Intensive Care, Edmond Safra International Congenital Heart Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. (nih.gov)
Chronic3
- There is increasing evidence that environmental, rather than genetic, factors are the major causes of most chronic diseases. (nih.gov)
- Because genetic factors typically account for only about 18% of chronic disease risks, it is reasonable to infer that nongenetic factors (i.e., exposures) are major causes of chronic diseases ( Rappaport 2016 ). (nih.gov)
- In chronic kidney disease (CKD), elevations of FGF23 levels can be 1000-fold above the upper physiological limit. (elsevierpure.com)
Liver1
- Death from liver disease usually occurs before age 2. (sdsu.edu)