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Diseases » Blaichman syndrome » Glossary
 

Glossary for Blaichman syndrome

  • Amoxicillin -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amoxicillin 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.
  • Atorvastatin -- Teratogenic Agent: There is strong evidence to indicate that exposure to Atorvastatin 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.
  • 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.
  • Breathing difficulties: Various types of breathing difficulty (dyspnea).
  • Bronchiectasis: Chronic bronchiole dilation from secretions and blockages.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chronic cough: The chronic noisy sudden expulsion of air from the respiratory tract
  • 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).
  • Del (2) (q22-q24.2): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Digestive Diseases: Diseases that affect the digestive system
  • Diphallus -- rachischisis -- imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
  • Esophageal atresia associated anomalies: Esophageal atresia is usually associated with various other congenital anomalies such aw cardiovascular, genitourinary and anorectal system anomalies. Symptoms will vary considerable depending on the nature of the congenital anomaly present. The highest death rates tends to occur in patients with associated heart malformations.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hand conditions: Any condition that affects the hand
  • Microcephaly, mental retardation and tracheoesophageal fistula (MMT): A rare syndrome characterized by the association of an abnormally small head, mental retardation and a tracheoesophageal fistula. Other variable symptoms may also be present.
  • Microcephaly, mental retardation and tracheoesophageal fistula associated with features of Rett Syndrome: A rare syndrome characterized by the association of an abnormally small head, mental retardation and a tracheoesophageal fistula.
  • Pneumonia: Infection of the lung by bacteria, viruses or fungus.
  • Poor feeding: Poor feeding (mostly in infants)
  • Tracheal agenesis syndrome: A rare birth condition where the trachea is absent or closed off.
  • 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.
  • Tracheoesophageal fistula symphalangism: A condition characterized by the association of fused digital joints with an abnormal opening between the trachea and esophagus.
  • VATER association: An association of congenital abnormalities that consists of vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia

 

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