Information about Congenital
A congenital disorder is any medical condition that is present at birth. However, a congenital disorder can be recognized before birth (prenatally), at birth, years later, or never. The term congenital does not imply or exclude a genetic cause.[1] Congenital disorders can be a result of genetic abnormalities, the environment, a mixture of both, errors of morphogenesis, or unknown factors.
Congenital conditions can be referred to as diseases, defects, disorders, anomalies, or simply genetic differences or uncomfortable. The usage overlaps, but also involves a value judgement as to the harmfulness of the condition. In particular, people may disagree as to whether a specific physical anomaly should be considered a birth defect or a normal variation. See human variability and disease for more on the occasional difficulties of drawing these distinctions.
A congenital disorder can have trivial or grave consequences. The most severe, such as anencephaly, are incompatible with life. Others, such as congenital tumors, vary from causing stillbirth to requiring fetal intervention or special delivery procedures such as the EXIT procedure, to needing surgery in the neonatal period. The most common congenital tumor is teratoma. Congenital physical anomalies (birth defects) are a leading cause of death in early infancy, accounting for the deaths of nearly 2 out every 1000 infants in the United States.
There are three major types of congenital disorders: 1. congenital physical anomalies 2. inborn errors of metabolism 3. other genetic disorders
The following terms are used for various subsets of congenital disorders:
Congenital malformations of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot. Helen Taussig has been a major force in research on congenital malformations of the heart.[1]
Congenital malformations of the nervous system include neural tube defects such as spina bifida, meningocele, meningomyelocele, encephalocele and anencephaly. Other congenital malformations of the nervous system include the Arnold-Chiari malformation, the Dandy-Walker malformation, hydrocephalus, microencephaly, megencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the corpus callosum.
Congenital malformations involving the brain are the largest group at 10 per 1000 live births, compared to heart at 8 per 1000, kidneys at 4 per 1000, and limbs at 1 per 1000. All other physical anomalies have a combined incidence of 6 per 1000 live births.
Congenital malformations of the heart have the highest risk of death in infancy, accounting for 28% of infant deaths due to birth defects, while chromosomal abnormalities and respiratory abnormalities each account for 15%, and brain malformations about 12%.
Genetic causes of congenital anomalies include inheritance of abnormal genes from the parents, as well as new mutations in one of the germ cells that gave rise to the fetus.
Environmental causes of congenital anomalies are referred to as teratogenic. These are generally problems with the mother. Teratogens can include dietary deficiencies, toxins, or infections. For example, dietary deficiency of maternal folic acid is associated with spina bifida. Ingestion of harmful substances by the mother (e.g, alcohol, mercury, or prescription drugs such as phenytoin) can cause recognizable combinations of birth defects.
Several infections which a mother can contract during pregnancy can also be teratogenic. These are referred to as the TORCH infections.
The type of birth defect is also related to the time of exposure to a teratogen. For instance, the heart is susceptible from three to eight weeks, but the ear is susceptible from a slightly later time to about twelve weeks.
Many common skin care ingredients can be absorbed through the skin in small amounts, where they can enter the bloodstream and pass into baby's circulation.
Infection in the mother early in the third week may damage the heart. An infection in the eleventh week is less likely to damage the heart, but the baby may be born deaf.
Morphogenesis (from the Greek morphê shape and genesis creation) is one of three fundamental aspects of developmental biology along with the control of cell growth and cellular differentiation.
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Tumor or tumour (via Old French tumour from Latin tumor "swelling") is an abnormal growth or mass of tissue. A tumor can be either malignant or benign.
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Congenital conditions can be referred to as diseases, defects, disorders, anomalies, or simply genetic differences or uncomfortable. The usage overlaps, but also involves a value judgement as to the harmfulness of the condition. In particular, people may disagree as to whether a specific physical anomaly should be considered a birth defect or a normal variation. See human variability and disease for more on the occasional difficulties of drawing these distinctions.
A congenital disorder can have trivial or grave consequences. The most severe, such as anencephaly, are incompatible with life. Others, such as congenital tumors, vary from causing stillbirth to requiring fetal intervention or special delivery procedures such as the EXIT procedure, to needing surgery in the neonatal period. The most common congenital tumor is teratoma. Congenital physical anomalies (birth defects) are a leading cause of death in early infancy, accounting for the deaths of nearly 2 out every 1000 infants in the United States.
Types of congenital disorder
"Congenital disorders" is a broad category that includes a variety of conditions. Congenital disorders include minor physical anomalies (e.g., a birthmark), severe malformations of single systems (e.g., congenital heart disease or dysmelia), and combinations of abnormalities affecting several parts of the body. Congenital defects of metabolism are also considered congenital disorders.There are three major types of congenital disorders: 1. congenital physical anomalies 2. inborn errors of metabolism 3. other genetic disorders
The following terms are used for various subsets of congenital disorders:
- A congenital physical anomaly is an abnormality of the structure of a body part. An anomaly may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully. Examples of minor anomalies can include curvature of the 5th finger (clinodactyly), tiny indentations of the skin near the ears (preauricular pits), shortness of the 4th metacarpal or metatarsal bones, or dimples over the lower spine (sac dimples). Some minor anomalies may be clues to more significant internal abnormalities.
- A congenital malformation is a congenital physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome.
- Birth defect is a widely-used term for a congenital malformation, i.e. a congenital, physical anomaly which is recognizable at birth, and which is significant enough to be considered a problem.
- Genetic disorder or diseases are all congenital, though they may not be expressed or recognized until later in life. Genetic diseases may be divided into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome. Chromosomal disorders involve the loss or duplication of larger portions of a chromosome (or an entire chromosome) containing hundreds of genes. Large chromosomal abnormalities always produce effects on many different body parts and organ systems.
- A congenital metabolic disease is also referred to as an inborn error of metabolism. Most of these are single gene defects, usually heritable. Many affect the structure of body parts but some simply affect the function.
Congenital physical anomalies (birth defects)
Types
A limb malformation is called a dysmelia. These include all forms of malformations of limbs, such as amelia, ectrodactyly, phocomelia, polymelia, polydactyly, syndactyly, polysyndactyly, oligodactyly, brachydactyly, achrondroplasia, congenital aplasia or hypoplasia, amniotic band syndrome, and cleidocranial dysostosis.Congenital malformations of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot. Helen Taussig has been a major force in research on congenital malformations of the heart.[1]
Congenital malformations of the nervous system include neural tube defects such as spina bifida, meningocele, meningomyelocele, encephalocele and anencephaly. Other congenital malformations of the nervous system include the Arnold-Chiari malformation, the Dandy-Walker malformation, hydrocephalus, microencephaly, megencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the corpus callosum.
Occurrence rate
About 3% of newborns have a "major physical anomaly", meaning a physical anomaly that has cosmetic or functional significance.[2]Congenital malformations involving the brain are the largest group at 10 per 1000 live births, compared to heart at 8 per 1000, kidneys at 4 per 1000, and limbs at 1 per 1000. All other physical anomalies have a combined incidence of 6 per 1000 live births.
Congenital malformations of the heart have the highest risk of death in infancy, accounting for 28% of infant deaths due to birth defects, while chromosomal abnormalities and respiratory abnormalities each account for 15%, and brain malformations about 12%.
Causes
The cause of 40-60% of congenital physical anomalies (birth defects) in humans is unknown. These are referred to as sporadic birth defects, a term that implies an unknown cause, random occurrence, and a low recurrence risk for future children. For 20-25% of anomalies there seems to be a "multifactorial" cause, meaning a complex interaction of multiple minor genetic abnormalities with environmental risk factors. Another 10-13% of anomalies have a purely environmental cause (e.g. infections, illness, or drug abuse in the mother). Only 12-25% of anomalies have a purely genetic cause. Of these, the majority are chromosomal abnormalities.[3]Genetic causes of congenital anomalies include inheritance of abnormal genes from the parents, as well as new mutations in one of the germ cells that gave rise to the fetus.
Environmental causes of congenital anomalies are referred to as teratogenic. These are generally problems with the mother. Teratogens can include dietary deficiencies, toxins, or infections. For example, dietary deficiency of maternal folic acid is associated with spina bifida. Ingestion of harmful substances by the mother (e.g, alcohol, mercury, or prescription drugs such as phenytoin) can cause recognizable combinations of birth defects.
Several infections which a mother can contract during pregnancy can also be teratogenic. These are referred to as the TORCH infections.
Teratogens
The greatest risk of a malformation due to environmental exposure to a teratogen (terato = monster, gen = producing) is between the third and eighth week of gestation. Before this time, any damage to the embryo is likely to result in fatality, and the baby will not be born. After eight weeks, the fetus and its organs are more developed and less sensitive to teratogenic incidents.The type of birth defect is also related to the time of exposure to a teratogen. For instance, the heart is susceptible from three to eight weeks, but the ear is susceptible from a slightly later time to about twelve weeks.
Many common skin care ingredients can be absorbed through the skin in small amounts, where they can enter the bloodstream and pass into baby's circulation.
Infection in the mother early in the third week may damage the heart. An infection in the eleventh week is less likely to damage the heart, but the baby may be born deaf.
Other congenital disorders
Besides congenital physical anomalies, the main types of congenital disorders are inborn errors of metabolism and other genetic disorders.References
1. ^ Kumar, Abbas and Fausto, eds., Robbins and Cotran's Pathologic Basis of Disease, 7th edition, p.470.
2. ^ Kumar, Abbas and Fausto, eds., Robbins and Cotran's Pathologic Basis of Disease, 7th edition, p.470.
3. ^ Kumar, Abbas and Fausto, eds., Robbins and Cotran's Pathologic Basis of Disease, 7th edition, p.473.
2. ^ Kumar, Abbas and Fausto, eds., Robbins and Cotran's Pathologic Basis of Disease, 7th edition, p.470.
3. ^ Kumar, Abbas and Fausto, eds., Robbins and Cotran's Pathologic Basis of Disease, 7th edition, p.473.
- CDC’s National Center on Birth Defects and Developmental Disabilities
- The National Library of Medicine or MEDLINE/PubMed MeSH (medical subject heading) term
- Birth Defects Are Preventable
- Medical dictionary definition of congenital from KMLE Medical Dictionary retrieved on 2007-03-25
- James F. Crow, "The High Spontaneous Mutation Rate: Is it a Health Risk?"
- American College of Medical Genetics
External links
See also
disease is an abnormal condition of an organism that impairs bodily functions. In human beings, "disease" is often used more broadly to refer to any condition that causes discomfort, dysfunction, distress, social problems, and/or death to the person afflicted, or similar problems
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Childbirth (also called labour, birth, partus or parturition) is the culmination of a human pregnancy or gestation period with the delivery of one or more newborn infants from a woman's uterus.
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* It may require general cleanup to meet Wikipedia's quality standards.
Please help [ improve the article] or discuss these issues on the talk page.
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A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body
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Genetics is the science of heredity and variation in living organisms.[1][2] Knowledge of the inheritance of characteristics has been implicitly used since prehistoric times for improving crop plants and animals through selective breeding.
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For the band, see .
Morphogenesis (from the Greek morphê shape and genesis creation) is one of three fundamental aspects of developmental biology along with the control of cell growth and cellular differentiation.
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Human variability, or human variation, is the range of possible values for any measurable characteristic, physical or mental, of human beings. Differences can be trivial or important, transient or permanent, voluntary or involuntary, congenital or acquired, genetic or
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disease is an abnormal condition of an organism that impairs bodily functions. In human beings, "disease" is often used more broadly to refer to any condition that causes discomfort, dysfunction, distress, social problems, and/or death to the person afflicted, or similar problems
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Anencephaly
Classification & external resources
The anterosuperior view of the head of an anencephalic fetus
ICD-10 Q 00.0
ICD-9 740.0
OMIM 206500
DiseasesDB 705
eMedicine neuro/639
MeSH C10.500.680.
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Classification & external resources
The anterosuperior view of the head of an anencephalic fetus
ICD-10 Q 00.0
ICD-9 740.0
OMIM 206500
DiseasesDB 705
eMedicine neuro/639
MeSH C10.500.680.
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For malignant tumors specifically, see .
Tumor or tumour (via Old French tumour from Latin tumor "swelling") is an abnormal growth or mass of tissue. A tumor can be either malignant or benign.
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Stillbirth
Classification & external resources
Ultrasonography is often used to diagnose stillbirth.
ICD-10 P 95.
MedlinePlus 002304
eMedicine topic list A stillbirth
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Classification & external resources
Ultrasonography is often used to diagnose stillbirth.
ICD-10 P 95.
MedlinePlus 002304
eMedicine topic list A stillbirth
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Fetal intervention involves in utero surgical treatment of a fetus. Procedures include open fetal surgery, the most invasive, and the less invasive fetendo and fetal image-guided surgery.
Fetal intervention is relatively new.
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Fetal intervention is relatively new.
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For the obstetrics procedure, see .
Exit procedure is a security term in computing that ensures that knowledge about a computer system remains more or less closed only to the people with access to it...... Click the link for more information.
MeSH D013724
A teratoma is a type of neoplasm (specifically, a tumor). The word teratoma comes from Greek and means roughly "monstrous tumor". Definitive diagnosis of a teratoma is based on its histology: a teratoma is a tumor with tissue or organ components
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A teratoma is a type of neoplasm (specifically, a tumor). The word teratoma comes from Greek and means roughly "monstrous tumor". Definitive diagnosis of a teratoma is based on its histology: a teratoma is a tumor with tissue or organ components
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birthmark is a blemish on the skin formed before birth. They are part of the group of skin lesions known as naevi. The cause of birthmarks is unknown, but may include cellular damage due to radiation or chemicals. Some types seem to run in families.
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A congenital disorder is any medical condition that is present at birth. However, a congenital disorder can be recognized before birth (prenatally), at birth, years later, or never. The term congenital does not imply or exclude a genetic cause.
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Heart disease is an umbrella term for a number of different diseases which affect the heart and as of 2007 it is the leading cause of death in the United States.[1]
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Types of heart disease
Cardiomyopathy
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Dysmelia (from Greek Δύσ - = "bad" plus μέλος (plural μέλεα) = "limb") is a congenital disorder referring to the limbs.
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MeSH D008661 Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).
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Clinodactyly is a medical term describing a bend or curvature of the fifth fingers (the "little fingers") toward the adjacent fourth fingers. It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in many genetic
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The metacarpus is the intermediate part of the hand skeleton that is located between the fingers distally and the carpus which forms the connection to the forearm.
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Specific metacarpals
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The metatarsus consists of the five long bones of the foot, which are numbered from the medial side (ossa metatarsalia I.-V.); each presents for examination a body and two extremities. These are analogous to the metacarpals of the hand.
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In medicine and psychology, the term syndrome refers to the association of several clinically recognizable features, signs (discovered by a physician), symptoms (reported by the patient), phenomena or characteristics which often occur together, so that the presence of one feature
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An autosome is a non-sex chromosome. It is an ordinarily pairedIn the case of higher ploidy levels than the usual diploid, there will be the same number of an autosome as the ploidy level itself. For example, in a pentaploid, there will be five copies of each autosome.
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The word dominant has several possible meanings:
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- In music theory, the dominant or dominant note (second most important) of a key is that which is a perfect fifth above the tonic; in just intonation the note whose pitch is 1.
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MeSH D008661 Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).
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Dysmelia (from Greek Δύσ - = "bad" plus μέλος (plural μέλεα) = "limb") is a congenital disorder referring to the limbs.
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Amelia
Classification & external resources
ICD-10 Q 73.0
ICD-9 755.21 , 755.31 , 755.4
Amelia (from Greek α = "none" plus μέλος (plural μέλεα) = "limb") is the birth defect of
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Classification & external resources
ICD-10 Q 73.0
ICD-9 755.21 , 755.31 , 755.4
Amelia (from Greek α = "none" plus μέλος (plural μέλεα) = "limb") is the birth defect of
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Ectrodactyly, commonly known as lobster claw syndrome [1], sometimes known as Karsch-Neugebauer syndrome, is a rare congenital deformity of the hand where the middle digit is missing, and the hand is cleft where the metacarpal of the finger should be.
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Phocomelia (from Greek φoko = "seal" plus μέλος (plural μέλεα) = "limb") is a congenital disorder involving the limbs (dysmelia). An individual exhibiting phocomelia may be referred to as a phocomelus.
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