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Results 1 - 10 of 10 for Respiratory distress
  1. Spinal muscular atrophy with respiratory distress type 1 
    Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning ...
    https://medlineplus.gov/...-atrophy-with-respiratory-distress-type-1 - Genetics
  2. IGHMBP2 gene 
    ... been found to cause spinal muscular atrophy with respiratory distress type 1 (SMARD1). SMARD1 is an inherited condition ... and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. ...
    https://medlineplus.gov/genetics/gene/ighmbp2 - Genetics
  3. Brain-lung-thyroid syndrome 
    ... brain-lung-thyroid syndrome. Some affected newborns have respiratory distress syndrome, which causes extreme difficulty breathing and can ... Problems with these organs underlie benign hereditary chorea, respiratory distress syndrome, congenital hypothyroidism, and other features of brain- ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  4. Surfactant dysfunction 
    ... The most severe form of this condition causes respiratory distress syndrome in newborns. Affected babies have extreme difficulty ... condition. One type, called SP-B deficiency, causes respiratory distress syndrome in newborns. Other types, known as SP- ...
    https://medlineplus.gov/genetics/condition/surfactant-dysfunction - Genetics
  5. Esophageal atresia/tracheoesophageal fistula 
    ... windpipe through the tracheoesophageal fistula, leading to coughing, respiratory distress, and a bluish appearance of the skin or lips (cyanosis). Esophageal atresia blocks liquids fed to the infant from ... fluids from the respiratory tract. EA/TEF is a life-threatening condition; ...
    https://medlineplus.gov/...phageal-atresia-tracheoesophageal-fistula - Genetics
  6. Spinal muscular atrophy 
    ... spinal muscular atrophy, and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes.Spinal muscular atrophy type 0 is evident before birth and is the rarest ... at birth. Their respiratory muscles are very weak and they often do ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  7. Multiple pterygium syndrome 
    ... is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  8. NKX2-1 gene 
    ... limbs and other uncontrolled movements; severe breathing difficulty (respiratory distress syndrome); and reduced thyroid gland function (hypothyroidism).Many ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics
  9. Alveolar capillary dysplasia with misalignment of pulmonary veins 
    ... affected individuals.Infants with ACD/MPV typically develop respiratory distress within a few minutes to a few hours ...
    https://medlineplus.gov/...asia-with-misalignment-of-pulmonary-veins - Genetics
  10. PRKAG2 gene 
    ... signaling within the heart. These abnormalities lead to respiratory distress and heart failure early in life. The mutation ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics