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Diseases » Polyhydramnios » Glossary
 

Glossary for Polyhydramnios

  • Abdominal conditions: Medical conditions affecting the abdominal region.
  • Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
  • Anencephaly: A birth defect where most or all of the brain is missing - most die before birth. Usually the associated portions of skull and other tissue are also missing.
  • Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
  • Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
  • Bartter's syndrome, type 3: A rare condition characterized by an electrolyte imbalance caused by mutations of the chloride channel gene (ClCNKb). It differs from Bartter's syndrome type I and type II in the absence of nephrocalcinosis. The severity of the condition is greatly variable.
  • Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
  • Congenital chloride diarrhea: A rare birth disorder where the intestines don't absorb electrolytes properly (especially chloride) which leads to electrolyte imbalance which is potentially fatal if untreated. Symptoms often start while the infant is still inside the womb.
  • Congenital mesoblastic nephroma: A benign congenital kidney tumor.
  • Congenital myotonic dystrophy: A form of muscular dystrophy which is usually apparent at birth or within a few years. and affects the skeletal muscles, heart conduction, smooth muscle, eyes and the central nervous system. The range of severity varies from asymptomatic to fetal death.
  • Contractures hyperkeratosis lethal: A rare fatal congenital syndrome where numerous abnormalities arise from reduced fetal movement due to excessively tight skin.
  • Cystic adenomatoid malformation of lung: A rare birth condition where the lungs fail to develop normally during the fetal stage and cysts form in parts of the lung instead of normal alveolar tissue.
  • Diffuse neonatal hemangiomatosis: A very rare syndrome characterized mainly by multiple capillary hemangiomas as well as other abnormalities.
  • Diphallus -- rachischisis -- imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
  • Epidermolysis bullosa, junctional, with pyloric atrophy: A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters as well as obstruction of the passage from the stomach to the intestine (pylorus). Death usually occurs within weeks of birth.
  • Esophageal atresia with tracheoesophageal fistula: A rare condition characterized by an abnormal opening between the trachea and esophagus as well as an underdeveloped esophagus where the esophagus is not connected to the stomach.
  • Fetal health conditions: Medical conditions affecting the health of a fetus while inside the pregnant mother.
  • Gestational diabetes: Diabetes that occurs in pregnant women, usually resolving after birth.
  • Marginal glioneuronal heterotopia: A rare inherited disorder where a part of the brain tissue is misplaced during development. The disorder is usually asymptomatic on its own and is only discovered accidentally.
  • Miller-Dieker syndrome: A rare genetic disorder characterized by a smooth brain surface. The condition occurs because of deletion of genetic material from the short arm of chromosome 17 ath a particular location (17p13.3).
  • Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
  • No symptoms: The absence of noticable symptoms.
  • Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Pregnancy-related conditions: Any condition that is related to or caused by pregnancy
  • Prune belly syndrome: A congenital condition where an infant is born without muscles in the front abdominal wall giving the loose skin a wrinkled, prune-like appearance.
  • Spina bifida: A birth defect where the spinal vertebrae do not completely enclose the spinal cord often resulting in various degrees of nerve damage.
  • Thanatophoric dysplasia:
  • Type II Achondrogenesis-Hypochondrogenesis: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
  • Uniparental disomy: A condition which is characterised by the uniparental disomy of chromosomes
  • Uniparental disomy 13: A condition which is characterised by the uniparental disomy of chromosome 13
  • Uniparental disomy of 11: A condition which is characterised by the uniparental disomy of chromosome 11
  • Uniparental disomy of 2: A condition which is characterised by the uniparental disomy of chromosome 2
  • Uniparental disomy of 6: A condition which is characterised by the uniparental disomy of chromosome 6
  • Uniparental disomy, paternal, chromosome 14: A condition which is characterised by the uniparental disomy of chromosome 14
  • Urioste Martinez-Frias syndrome: A syndrome characterised by multiple abnormalities
  • Van Regemorter Pierquin Vamos syndrome: A syndrome which is characterised by multiple congenital abnormalities
  • Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.
  • Women-only conditions: Conditions affecting women (females), but not males.
  • Womens health conditions: Medical conditions related to women's health.

 

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