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Diseases » Tetralogy of Fallot » Glossary
 

Glossary for Tetralogy of Fallot

  • 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Acutane embryopathy: A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects.
  • Alagille Syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • 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.
  • Carbamazepine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Carbamazepine 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 level of exposure and the stage of pregnancy that the exposure occurred at.
  • Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Cayler syndrome: A very rare disorder involving heart defects and abnormalities involving the lower lip muscle.
  • Chest conditions: Any condition affecting the chest
  • Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 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 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
  • Chromosome 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
  • Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
  • Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 22q11 Deletion Spectrum: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
  • Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Circulatory system conditions: Medical conditions affecting the heart and the circulatory system.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • 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.
  • Del (2) (q34-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del(1) (p22.3-p13.3): A very rare chromosomal disorder where a portion of the short arm (p22.3-p13.3) of chromosome one is missing. The type and severity of symptoms is variable.
  • Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • Duodenal atresia tetralogy of Fallot: A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through.
  • Dup(1) (p31-p21): A very rare chromosomal disorder where a portion of the short arm (p31-p21) of chromosome one is duplicated. The type and severity of symptoms is variable.
  • Dup(1) (p35-p31): A very rare chromosomal disorder where a portion of the short arm (p35-p31) of chromosome one is duplicated. The reported case resulted in death at 6 weeks of age.
  • Familial Tetralogy of Fallot and Glaucoma: A condition observed in one family and characterized by a congenital heart defect and congenital glaucoma.
  • Fara-Chlupackova syndrome: A rare syndrome characterized mainly by ear, face and neck abnormalities.
  • German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
  • Heart conditions: Any condition that affects the heart
  • Houlston ironton temple syndrome de: A rare syndrome characterized by forearm abnormality, heart defect and an eye anomaly called blepharophimosis.
  • Houlston-Ironton-Temple syndrome: A very rare syndrome characterized mainly by a forearm abnormaity, heart defect and an eye anomaly called blepharophimosis.
  • Hydrocephaly low insertion umbilicus: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, umbilical cord abnormalities and heart defects.
  • Hypertelorism and tetralogy of Fallot: A very rare disorder characterized by a heart defect and wide set eyes.
  • Insulin -- Teratogenic Agent: There is evidence to indicate that exposure to Insulin 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 level of exposure and the stage of pregnancy that the exposure occurred at.
  • Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
  • Krieble Bixler syndrome: A rare inherited syndrome characterized by blepharphimosis and various congenital anomalies involving the limbs, heart, ear and face.
  • Methotrexate -- Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate 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 level of exposure and the stage of pregnancy that the exposure occurred at.
  • Misoprostol -- Teratogenic Agent: There is evidence to indicate that exposure to Misoprostol 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 level of exposure and the stage of pregnancy that the exposure occurred at.
  • Palmer-Pagon syndrome: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, umbilical cord abnormalities and heart defects.
  • Pfeiffer Syndrome Type II: 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 and cardiovascular malformations with death often occurring early.
  • Pfeiffer syndrome Type 2: 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 and cardiovascular malformations with death often occurring early.
  • Phenobarbital -- Teratogenic Agent: There is evidence to indicate that exposure to Phenobarbital 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 level of exposure and the stage of pregnancy that the exposure occurred at.
  • Poor feeding: Poor feeding (mostly in infants)
  • Porencephaly -- cerebellar hypoplasia -- malformations: A very rare syndrome characterized mainly by abnormal brain development and internal malformations.
  • Primidone -- Teratogenic Agent: There is evidence to indicate that exposure to Primidone 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 level of exposure and the stage of pregnancy that the exposure occurred at.
  • Rhabdomyomatous dysplasia -- cardiopathy -- genital anomalies: A very rare syndrome characterized mainly by genital anomalies, heart disease and lung problems.
  • Rommen-Mueller-Sybert syndrome: A very rare syndrome characterized mainly by heart defects, short stature and craniofacial anomalies.
  • Secobarbital -- Teratogenic Agent: There is evidence to indicate that exposure to Secobarbital 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 level of exposure and the stage of pregnancy that the exposure occurred at.
  • Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
  • Smith-Martin-Dodd syndrome: A very rare syndrome characterized mainly by small eyes, a hernia and a heart defect (tetralogy of Fallot).
  • Thakker-Donnai syndrome: A very rare, severe genetic syndrome characterized by abnormal internal organs and facial anomalies.
  • Timothy syndrome: A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy.
  • Trisomy 14 Mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
  • Trisomy 14 Mosaicism Syndrome: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary considerably between patients depending on how many of the body's cells have the extra genetic material.
  • Trisomy 4 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 4 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.
  • Unusual facies, preauricular pits, fifth finger clinodactyly and tetralogy of Fallot: A rare syndrome characterized mainly by facial anomalies, finger defect and a heart abnormality.
  • Varicella Vaccine -- Teratogenic Agent: There is evidence to indicate that exposure to Varicella Vaccine 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 level of exposure and the stage of pregnancy that the exposure occurred at.
  • Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
  • Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.
  • Weight loss: Loss of body weight.

 

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