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Results 1 - 10 of 71 for "muscle," "absence," congenital
  1. ... matrix that surrounds muscle cells is necessary for muscle cell stability and growth. Mutations in the type VI collagen genes that cause Ullrich congenital muscular dystrophy result in an absence or severe shortage (deficiency) of type VI collagen. ...
  2. Muscular Dystrophy: Hope Through Research From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... may include difficulty swallowing or sucking, impaired breathing, absence of reflexes, skeletal deformities and contractures (such as club feet), and muscle weakness, especially in the face. Children with congenital myotonic MD may also experience mental impairment and ...
  3. ... into semen. prune belly syndrome: A triad of congenital symptoms that include multiple tract abnormalities. The common abnormalities include the absence of abdominal muscles, undescended testicles and abnormalities of the upper urinary ...
  4. Genetics Home Reference: Congenital afibrinogenemia From the National Institutes of Health (National Library of Medicine)  
    ... into the spaces between joints (hemarthrosis) or the muscles (hematoma) are common and can ... can have abnormally heavy menstrual bleeding (menorrhagia). ...
  5. ... fiber and within the cell help to keep muscle cells working properly. When one ... forms of congenital muscular dystrophy arise from defects in proteins in ...
  6. Megaureter (Urology Care Foundation)  
    ... Before birth. prune belly syndrome: A triad of congenital symptoms that include multiple tract abnormalities. The common abnormalities include the absence of abdominal muscles, undescended testicles and abnormalities of the upper urinary ...
  7. Thoracic Insufficiency Syndrome (Scoliosis Research Society)  
    ... for them to move properly, and the diaphragm muscle must be properly anchored at the base of the chest. In congenital scoliosis, there can be missing or fused ribs. When there is an absence of ribs of the chest wall, the underlying ...
  8. ... failure and sudden death. People with Berardinelli-Seip congenital lipodystrophy have a distinctive physical appearance. The combination of an almost total absence of adipose tissue and an overgrowth of muscle tissue makes these individuals appear very muscular. They ...
  9. Learning about Poland Anomaly From the National Institutes of Health (National Human Genome Research Institute)  
    ... anomaly (PA) is described as an underdevelopment or absence of the chest muscle ... at birth (congenital). For people born with PA, the breastbone portion ( ...
  10. Craniofacial Syndrome Descriptions (Children's Craniofacial Association)  
    ... Syndrome Spanish Version Moebius Syndrome is ... paralysis of the facial muscles. Children and adults with facial paralysis may be ...
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