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Diseases » Anencephaly » Glossary
 

Glossary for Anencephaly

  • Blindness: The inability to see out of the eyes
  • Brain conditions: Medical conditions that affect the brain
  • Cephalic disorders: Various congenital brain defects
  • 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 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 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 2, trisomy 2pter p24: A rare chromosomal anomaly resulting in severe developmental problems with the brain as well as ureter and kidney anomalies.
  • 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.
  • Clomiphene Citrate -- Teratogenic Agent: There is evidence to indicate that exposure to Clomiphene Citrate 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.
  • 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).
  • Daunomycin -- Teratogenic Agent: There is evidence to indicate that exposure to Daunomycin (a chemotherapy drug) 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.
  • Daunorubicin -- Teratogenic Agent: There is evidence to indicate that exposure to Daunorubicin (a chemotherapy drug) 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.
  • Deafness: Inability to hear sounds.
  • Death: The cessation of life
  • 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.
  • Diprosopia: A very rare syndrome characterized by various facial anomalies, anencephaly and cleft lip and palate.
  • Doxylamine-Pyridoxine therapy- Teratogenic Agent: There is evidence to indicate that exposure to Doxylamine-Pyridoxine therapy 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.
  • Dup (2) (pter-p13) and del (5) (pter-p15): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case (fetus). The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (pter-p23) and del (pter-p15): 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.
  • 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.
  • Dysraphism -- cleft lip palate -- limb reduction defects: A very rare syndrome characterized mainly by an abnormal opening in the lip and palate, forearm abnormalities, spinal cord defects and an abnormal abdominal opening allowing the abdominal contents to protrude.
  • Famotidine -- Teratogenic Agent: There is evidence to indicate that exposure to Famotidine (used to treat and prevent ulcers) 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.
  • Flucytosine -- Teratogenic Agent: There is evidence to indicate that exposure to Flucytosine (an antifungal drug) 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.
  • Fluorouracil -- Teratogenic Agent: There is evidence to indicate that exposure to Fluorouracil (a chemotherapy drug) 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.
  • Head Conditions: Conditions that affect the head
  • Hyperthermia -- Teratogenic Agent: There is strong evidence to indicate that hyperthermia 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.
  • Hyperthermia induced defects: A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.
  • 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.
  • Lamotrigine -- Teratogenic Agent: There is evidence to indicate that exposure to Lamotrigine 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.
  • Lithium -- Teratogenic Agent: There is evidence to indicate that exposure to Lithium 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.
  • Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
  • Meckel syndrome, type 5: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 5 is caused by a defect in the RPGRIP1L gene on chromosome 16q12.2.
  • Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Neural tube defect: Any defect that occurs to the neural tube
  • Neural tube defect, folate-sensitive: Neural tube defects caused by abnormal folate or homocysteine metabolism. Neural tube defects are brain or spine defects such as an opening in the spinal cord through which the spinal cord protrudes.
  • Neural tube defects X-linked: A very rare disorder where neural tube defects (brain and spine defects) such as spina bifida are inherited in a X-linked manner (only males are affected whereas females are carriers).
  • Pain: A feeling of suffering, agony, distress caused by the stimulation of pain fibres in the nervous system
  • Pepcid -- Teratogenic Agent: There is evidence to indicate that exposure to Pepcid (used to treat and prevent ulcers) 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.
  • 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.
  • Polyhydramnios: Excess amniotic fluid around a fetus in the womb. The condition may occur as a result of gastrointestinal, neurological, lung or other disorders. Mild cases are asymptomatic but more severe cases can result in problems for the mother and the baby.
  • 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.
  • Schisis association: A medical term used to describe any condition involving two or more malformations of certain types. Malformations can include such things as oral clefts, neural tube defects, diaphragmatic hernias and omphaloceles.
  • 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.
  • Spinal Cord Disorders: Any condition that affects the spinal cord
  • Stillbirth: Where a woman delivers a child who is dead
  • Unconsciousness: Loss of consciousness that may result from a wide variety of causes. An unconscious person is usually completely unresponsive to their environment or people around them. Unconsciousness can occur as a result of brain injury, lack of oxygen or poisoning as well as numerous other conditions.
  • Warfarin syndrome: Various physical and other abnormalities that can result from the use of the drug Warfarin during the first trimester of pregnancy.

 

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