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Results 1 - 10 of 25 for Thoracic hypoplasia
  1. Cerebro-facio-thoracic dysplasia 
    ... of other features can occur in cerebro-facio-thoracic dysplasia, such as abnormalities involving the eyes, skin, or hair. Heart defects, ... Affected individuals may also have bone or joint abnormalities in other parts of the body. Cerebro-facio-thoracic dysplasia is a rare disorder. Its prevalence is ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  2. IFT80 gene 
    ... asphyxiating thoracic dystrophy.In some affected individuals, asphyxiating thoracic dystrophy is also associated with abnormalities of the kidneys, liver, retinas, and other tissues. ...
    https://medlineplus.gov/genetics/gene/ift80 - Genetics
  3. DYNC2H1 gene 
    ... asphyxiating thoracic dystrophy.In some affected individuals, asphyxiating thoracic dystrophy is also associated with abnormalities of the kidneys, liver, retinas, and other tissues. ...
    https://medlineplus.gov/genetics/gene/dync2h1 - Genetics
  4. Asphyxiating thoracic dystrophy 
    ... can improve with age.Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  5. Familial thoracic aortic aneurysm and dissection 
    ... to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  6. TMCO1 gene 
    ... mutations have been found to cause cerebro-facio-thoracic dysplasia, which is characterized by severe intellectual disability, distinctive facial features, and bone abnormalities that primarily involve the ribs and spinal bones ( ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
  7. NOTCH1 gene 
    ... higher than normal risk of developing other aortic abnormalities, such as a bulge in the wall of the aorta (thoracic aortic aneurysm) or a sudden tearing of the ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  8. Mainzer-Saldino syndrome 
    ... National Organization for Rare Disorders (NORD) SHORT-RIB THORACIC DYSPLASIA 9 ... of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  9. IFT140 gene 
    ... caused by problems with cilia and involve bone abnormalities are called skeletal ciliopathies. More About This Health Condition MedlinePlus Genetics provides information about Asphyxiating thoracic dystrophy More About This Health Condition c305C8.4 ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  10. FBN1 gene 
    ... tissue, which causes the eye, heart, and skeletal abnormalities associated with Weill-Marchesani syndrome. More About This Health Condition MedlinePlus Genetics provides information about Familial thoracic aortic aneurysm and dissection More About This Health ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
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