Glossary for Congenital heart defects

• $14q+ syndrome$: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• $22q11.2 deletion syndrome$: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• $7p2 Monosomy Syndrome$: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrocephalopolydactyly - Cardiac Disease - Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
• Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Additional Heart Sounds: A heart sound that is heard in addition to the normal two beats.
• Al Gazali Aziz Salem syndrome: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
• Arterial occlusive disease, progressive - hypertension - heart defects - bone fragility - brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
• Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
• Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
• Blepharophimosis syndrome Ohdo type: An extremely rare syndrome characterized primarily by mental retardation and eye anomalies. Only a handful of cases have been reported.
• Blepharoptosis: Droopy upper eyelid. The condition may be caused by such things as stroke, brain tumor, diabetes and myasthenia gravis.
• Blepharoptosis - aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
• Blue baby: Any baby born with blueness
• Blue lips: Blueness or discoloration of the lips
• Blue skin: Blueness of the skin
• Brain malformation - congenital heart disease - postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
• Breathing difficulties: Various types of breathing difficulty (dyspnea).
• CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
• Cardiac malformation: Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depending on the type of malformation.
• Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
• Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction: A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.
• Childbirth: Delivery of a fetus by a pregnant woman.
• Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
• Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
• Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 12 trisomy: A rare chromosomal disorder where there are three copies of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
• Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
• Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 5, trisomy 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6, trisomy 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
• Chromosome 7, Monosomy 7p2: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 7, terminal 7p deletion: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 8 deletion: A rare chromosomal disorder where there is only one copy of the genetic material of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is missing.
• Chromosome 8, monosomy 8p23.1: A rare chromosomal disorder involving the deletion of a portion of the short arm of chromosome 8. The symptoms are determined by the size and exact location of the deleted portion.
• Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
• Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
• Collins-Dennis-Clarke-Pope Syndrome: A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects.
• Complete Trisomy 18 syndrome: Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or during infancy.
• Congenital heart disease radio ulnar synostos mental retardation: A very rare syndrome characterized mainly by the presence of mental retardation, congenital heart disease and fusion of the forearm bones.
• Congenital heart disease, ptosis, hypodontia, craniosynostosis: A rare birth syndrome characterized by heart disease, droopy eyelids, missing teeth and premature fusion of skull bones.
• Congenital malformations: Physical body or organ malformations existing at birth
• Conotruncal heart malformations: A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.
• Craniosynostosis - congenital heart disease - mental retardation: A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation.
• Cyanosis: Blueness or purple coloring of skin.
• Del(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable.
• Deletion 11q: A very rare genetic disorder characterized by the deletion of genetic material from the long arm (q) of chromosome 11 - the genetic material occurs only once in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the deleted genetic material.
• Deletions of chromosome 8: A rare chromosomal disorder where there is only one copy of the genetic material of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is missing.
• DiGeorge's syndrome: Rare form of primary immune deficiency
• Distichiasis with Congenital Anomalies of the heart and Peripheral Vasculature: A very rare condition characterized by congenital heart defects, a double row of eyelashes (distichiasis) and peripheral blood vessel anomalies.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Dup(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is duplicated. The type and severity of symptoms may vary.
• Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
• Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Duplication 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
• Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Edward Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
• Edwards Syndrome: A rare inherited genetic disorder where a portion of chromosome 18 is duplicated. Most affected individuals die during the fetal stage and surviving infants have serious defects and tend to live for only a short while.
• Eisenmenger Syndrome: Increased lung blood pressure that can result from conditions such as a hole in the wall between the two heart chambers.
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Forney Robinson Pascoe syndrome: A rare condition characterized by skeletal abnormalities, deafness and mitral regurgitation.
• Franceschini-Vardeu-Guala syndrome: A very rare disorder characterized by premature puberty, lower lip pits and Kabuki syndrome. Kabuki syndrome is a mental retardation syndrome which also involves a range of physical abnormalities.
• Gay-Feinmesser-Cohen syndrome: A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx.
• Genée-Wiedemann syndrome: An extremely rare birth disorder characterized by mental retardation and a variety of physical defects.
• Gestational diabetes: Diabetes that occurs in pregnant women, usually resolving after birth.
• Goossens-Devriendt syndrome: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
• Heart conditions: Any condition that affects the heart
• Ho Kaufman-Mcalister syndrome: A rare congenital disorder characterized by congenital heart disease, skeletal abnormalities and a cleft palate.
• Holt-Oram Syndrome: A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected.
• Humerospinal dysostosis - congenital heart disease: A very rare syndrome characterized mainly by various skeletal defects and heart disease which is present at birth.
• Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
• Hurst-Hallam-Hockey syndrome: A group of malformation described in a stillborn infant. Defects include leptomeningeal angiomatosis (abnormal blood vessels in sheath surrounding brain and spinal cord), heart disease, cleft lip and palate and brain abnormalities.
• Insulin Dependent Diabetes Mellitus - Teratogenic Agent: There is strong evidence to indicate that the development of insulin dependent diabetes mellitus during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
• Laryngeal web congenital heart disease short stature: A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx.
• Lissencephaly: A very rare disorder characterized by abnormal brain formation so that the brain surface appears smooth rather than convoluted.
• Lissencephaly syndrome type 1: A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted resulting in mental retardation. Physical malformations are also present.
• Loeys-Dietz syndrome: A very rare syndrome characterized mainly by a bulge in the aorta (aneurysm), wide set eyes, cleft palate, divided uvula and twisted arteries.
• Lupus: Autoimmune disease with numerous effects on various organs and linings.
• Lymphedema distichiasis syndrome: A rare genetic disorder characterized by lymphedema and a double row of eyelashes as well as other abnormalities.
• Maternal hyperphenylalaninemia: A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.
• Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism: A rare syndrome characterized by small eyes, small head, missing toes and a protrucing jaw.
• Microphthalmia syndromic, type 8: A rare syndrome characterized by small eyes, small head, missing toes and protruding jaw.
• Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality: A rare condition characterized by various skeletal and eye abnormalities and early death. The parents of the children reported with the condition are believed to be related.
• Neurofaciodigitorenal syndrome: A very rare syndrome characterized mainly by
• Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister Mosaic Syndrome Tetrasomy 12p: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister-Hall Syndrome: A rare genetic disorder characterized by hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and polydactyly.
• Partial Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of only part of chromosome 18 in the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of the whole of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved and how much of the chromosome is involved.
• Patent ductus arteriosus: Patent ductus arteriosus (PDA) is a congenital heart defect wherein a child's ductus arteriosus fails to close after birth.
• Pfeiffer syndrome Type 3: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include craniofacial abnormalities, cardiovascular malformations and early death is common.
• Phenylketonuria - Teratogenic Agent: There is strong evidence to indicate that the development of Phenylketonuria during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• Poor growth: Poor body growth or delayed physical development.
• Powell-Chandra-Saal syndrome: A very rare syndrome characterized mainly by webbed joints and heart, vertebral, ear and radial defects.
• Primary pulmonary hypertension: Primary pulmonary hypertension refers to high blood pressure in the arteries that carry blood to the lungs for no apparent reason. Blood pressure in other parts of the body is normal or sometimes even low.
• Rubella: A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal death.
• Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Short limbs - abnormal face - congenital heart disease: A very rare syndrome characterized by the association of short arms and legs, an abnormal facial appearance and congenital heart disease. Limb shortening tends to affects the arms more than the legs.
• Short stature webbed neck heart disease: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
• Single upper central incisor: A very rare syndrome characterized by various defects in the middle of the face.
• Spondyloepimetaphyseal dysplasia with joint laxity: A rare skeletal disorder where the spine and long bones grow and develop abnormally. Loose joints and severe curvature of the spine is also present. The condition is severe and death in the first couple of decades is common.
• Tabatznik syndrome: A very rare syndrome involving heart and hand abnormalities.
• Tetralogy of Fallot: A condition which is characterized pulmonary stenosis, interventricular septal defect, right ventricular hypertrophy and dextroposition of the aorta
• Tracheal stenosis syndrome: A rare birth condition where a portion of the trachea is narrowed due to the cartilage rings that make up the trachea forming a complete or almost complete ring. The condition is associated with various other abnormalities.
• Transposition of great arteries: A congenital malformation where the aorta and pulmonary artery are transposed which causes oxygenated blood from the lungs to be sent back to the lungs and de-oxygenated blood to be sent to body tissues. Often there is some other defect such as an opening in the heart chambers which allows mixing of the blood and hence survival is possible for a short while at least.
• Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 13 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 13 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect. There appears to be a direct correlation between the number of cells in the body containing the chromosomal defect and severity of symptoms and survival.
• Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
• Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
• Trisomy 21 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 1 in some of the body's cells. The presence of trisomy 20 in all cells causes Down's syndrome and thus the presence in fewer body cells results in conditions that are similar to Down's but tend to be milder.
• Trisomy 8 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• VACTERL association: A rare syndrome characterized by often severe deformities involving the limbs, kidneys, anus, heart, esophagus and spine.
• VACTERL hydrocephaly: A rare syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
• VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
• Van der Woude syndrome: A syndrome which is characterised by multiple congenital abnormalities
• Van der Woude syndrome 2: A syndrome which is characterised by multiple congenital abnormalities
• Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.
• Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate
• Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
• Yorifuji Okuno syndrome: A condition that is characterised by pancreatic insufficiency and heart disease
• Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.
• Zunich-Kaye syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

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