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34 relations: Agenesis of the corpus callosum, Alpha-fetoprotein, Central nervous system, Chiari malformation, Chromosome, Chromosome abnormality, Cleft lip and cleft palate, Clubfoot, Congenital heart defect, Cystic hygroma, Disabilities affecting intellectual abilities, Edwards syndrome, Egg cell, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hypertelorism, Intrauterine growth restriction, Karyotype, Medical genetics, Miscarriage, Mosaic (genetics), Neural tube defect, Obstetric ultrasonography, Oligohydramnios, Omphalocele, Palliative care, Patau syndrome, Ploidy, Polyploid, Sperm, Spina bifida, Syndactyly, Ventriculomegaly.
Agenesis of the corpus callosum
Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum.
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Alpha-fetoprotein
Alpha-fetoprotein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or alpha fetal protein) is a protein that in humans is encoded by the AFP gene.
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Central nervous system
The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.
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Chiari malformation
Chiari malformations (CMs) are structural defects in the cerebellum.
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Chromosome
A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.
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Chromosome abnormality
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.
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Cleft lip and cleft palate
Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft lip (CL), cleft palate (CP), and both together (CLP).
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Clubfoot
Clubfoot is a birth defect where one or both feet are rotated inwards and downwards.
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Congenital heart defect
A congenital heart defect (CHD), also known as a congenital heart anomaly or congenital heart disease, is a problem in the structure of the heart that is present at birth.
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Cystic hygroma
A cystic hygroma is an abnormal growth that usually appears on a baby's neck or head. It consists of one or more cysts and tends to grow larger over time. The disorder usually develops while the baby is still in the womb, but can also appear after birth. Also known as cystic lymphangioma and macrocystic lymphatic malformation, the growth is often a congenital lymphatic lesion of many small cavities (multiloculated) that can arise anywhere, but is classically found in the left posterior triangle of the neck and armpits. This is the most common form of lymphangioma. The malformation contains large cyst-like cavities containing lymph, a watery fluid that circulates throughout the lymphatic system. Microscopically, cystic hygroma consists of multiple locules filled with lymph. Deep locules are quite big, but they decrease in size towards the surface. Cystic hygromas are benign, but can be disfiguring. It is a condition which usually affects children; very rarely it can be present in adulthood. Cystic hygroma is also known as lymphatic malformation. Currently, the medical field prefers to use the term lymphatic malformation because the term cystic hygroma means water tumor. Lymphatic malformation is more commonly used now because it is a sponge-like collection of abnormal growth that contains clear lymphatic fluid. The fluid collects within the cysts or channels, usually in the soft tissue. Cystic hygromas occur when the lymphatic vessels that make up the lymphatic system are not formed properly. There are two types of lymphatic malformations. They are macrocystic lymphatic malformations, large cysts, and microcystic, small cysts. A person may have only one kind of the malformation or can have a mixture of both macro and micro cysts. Cystic hygroma can be associated with a nuchal lymphangioma or a fetal hydrops. Additionally, it can be associated with Turner syndrome or with Noonan syndrome. A lethal version of this condition is known as Cowchock Wapner Kurtz syndrome that, in addition to cystic hygroma, includes cleft palate and lymphedema, a condition of localized edema and tissue swelling caused by a compromised lymphatic system.
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Disabilities affecting intellectual abilities
There are a variety of medical conditions affecting cognitive ability.
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Edwards syndrome
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18.
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Egg cell
The egg cell, or ovum (plural ova), is the female reproductive cell (gamete) in oogamous organisms.
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Holoprosencephaly
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres.
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Hydrocephalus
Hydrocephalus is a condition in which there is an accumulation of cerebrospinal fluid (CSF) within the brain.
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Hydronephrosis
Hydronephrosis describes urine-filled dilation of the renal pelvis and/or calyces as a result of obstruction.
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Hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism.
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Intrauterine growth restriction
Intrauterine growth restriction (IUGR) refers to poor growth of a fetus while in the mother's womb during pregnancy.
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Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
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Medical genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.
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Miscarriage
Miscarriage, also known as spontaneous abortion and pregnancy loss, is the natural death of an embryo or fetus before it is able to survive independently.
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Mosaic (genetics)
In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.
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Neural tube defect
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spinal cord or brain remains from early in human development.
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Obstetric ultrasonography
Obstetric ultrasonography is the use of medical ultrasonography in pregnancy, in which sound waves are used to create real-time visual images of the developing embryo or fetus in its mother's uterus (womb).
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Oligohydramnios
Oligohydramnios is a condition in pregnancy characterized by a deficiency of amniotic fluid.
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Omphalocele
Omphalocele, also called exomphalos, is a rare abdominal wall defect in which the intestines, liver and occasionally other organs remain outside of the abdomen in a sac because of failure of the normal return of intestines and other contents back to the abdominal cavity during around the ninth week of intrauterine development.
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Palliative care
Palliative care is a multidisciplinary approach to specialized medical and nursing care for people with life-limiting illnesses.
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Patau syndrome
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13.
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Ploidy
Ploidy is the number of complete sets of chromosomes in a cell, and hence the number of possible alleles for autosomal and pseudoautosomal genes.
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Polyploid
Polyploid cells and organisms are those containing more than two paired (homologous) sets of chromosomes.
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Sperm
Sperm is the male reproductive cell and is derived from the Greek word (σπέρμα) sperma (meaning "seed").
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Spina bifida
Spina bifida is a birth defect where there is incomplete closing of the backbone and membranes around the spinal cord.
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Syndactyly
Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together.
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Ventriculomegaly
Ventriculomegaly is a brain condition that occurs in the fetus when the lateral ventricles become dilated.
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References
[1] https://en.wikipedia.org/wiki/Triploid_syndrome
