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Results 91 - 100 of 104 for Congenital heart anomalies
  1. TRNT1 deficiency 
    ... with TRNT1 deficiency include hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss), recurrent seizures (epilepsy), and problems with the kidneys or heart.TRNT1 deficiency encompasses what was first thought to ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  2. CHILD syndrome 
    ... same side of the body as the skin abnormalities. Some children have a curvature of the spine (scoliosis) or joint deformities that restrict movement (contractures). In some cases, CHILD syndrome affects the development of the brain, heart, lungs, and kidneys. CHILD syndrome is a rare ...
    https://medlineplus.gov/genetics/condition/child-syndrome - Genetics
  3. Centronuclear myopathy 
    ... People with this condition may also have foot abnormalities, a high arch in ... muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  4. Shwachman-Diamond syndrome 
    ... threatening problems with breathing. The combination of skeletal ... liver, heart, endocrine system (which produces hormones), eyes, teeth, and ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  5. Congenital central hypoventilation syndrome 
    ... people with CCHS may have difficulty regulating their heart rate and blood ... CCHS have abnormalities in the nerves that control the digestive tract ( ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  6. Au-Kline syndrome 
    ... down the middle of the tongue. Less common abnormalities include premature joining of ... of the heart, blood vessels, kidneys, or bones can also occur ...
    https://medlineplus.gov/genetics/condition/au-kline-syndrome - Genetics
  7. Weill-Marchesani syndrome 
    ... microfibrils, which weakens connective tissue and causes the abnormalities associated with Weill-Marchesani syndrome.In some people ... condition. ... Congenital mesodermal dysmorphodystrophy Marchesani syndrome Marchesani-Weill Syndrome Spherophakia- ...
    https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome - Genetics
  8. Grange syndrome 
    ... the condition. Arterial occlusive disease, progressive, with ... consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. ...
    https://medlineplus.gov/genetics/condition/grange-syndrome - Genetics
  9. Cutis laxa 
    ... seizures, problems with movement, or eye or bone abnormalities.The X-linked form of cutis laxa is ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  10. LMNA gene 
    ... unable to store and use fats properly. These abnormalities of adipose tissue alter hormone production and affect ... gene have been reported to cause LMNA-related congenital muscular dystrophy (L-CMD), a rare condition characterized ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
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