Autosomal Dominant Genetic Disorders

Autosomal Dominant Genetic Disorders

Recently Answered

  • 1 Answer
    A
    Smoking is particularly hazardous for patients with familial hypercholesterolemia (FH) and it is strongly advised that FH patients do not smoke. Smoking causes additional damage to the blood vessels, and reduces high-density lipoprotein (HDL)-cholesterol ('good cholesterol') and triples the risk of cardiovascular disease -- even when blood cholesterol is within the normal range. Untreated FH patients already have a risk of developing cardiovascular disease that is 25 times greater than people who do not have FH.
  • 1 Answer
    A
    The diet for individuals with familial hypercholesterolemia (FH) should be varied, balanced and heart-friendly. The aim is to gradually reduce the total intake of fats and cholesterol while, at the same time, focusing on eating the right type of fat, foods rich in fiber, fruit, berries and vegetables. For children with FH, dietary management should be supported by a change in diet for the whole family. It is important that healthy food habits are established early.

    Changing diet takes time, often months or years, and requires regular follow up by a clinical nutritionist or doctor. What you eat on a regular basis is what matters; occasional deviations from the advised diet will not result in increased blood cholesterol.
  • 1 Answer
    A

    Most individuals with Williams syndrome must have full-time care. Developmental delays, intellectual disabilities, and mild to moderate retardation are characteristic of this genetic condition. Regular physical, speech, and developmental therapy will be needed, along with treatment for the health problems common to this disorder. Adults often live in residential facilities where they can receive supervision and care.

  • 1 Answer
    A

    Symptoms of Williams syndrome include the following:

     

    -  Colic and other digestive problems

    -  Delayed development

    -  Mild to moderate intellectual disability, attention deficit disorder, and learning disorders

    -  Distinctive facial and body features, including a small, upturned nose; a prominent mouth with full lips; deep skin creases that run from nose to mouth; and hooded eyes

    -  An outgoing personality that is interested in and trusting of strangers

    -  Difficulty performing visual-spatial activities like drawing

    -  Talent with speaking, music, and memorization

    -  Cardiovascular problems

    -  Joint and connective tissue problems

    -  Vision and coordination problems

    -  Dental problems, including small teeth spaced too far apart, missing teeth, and crooked teeth

     


     

  • 2 Answers
    A

    Several forms of osteogenesis imperfecta (otherwise known as OI or brittle bone disease) can be detected in a baby using prenatal genetic testing.

    A child who experiences multiple bone breaks should be evaluated by a physician.  Also, the whites of the child’s eyes may have a slight blue tint.

    A physician may decide to do a skin biopsy to make a diagnosis, and family members may be asked to undergo a DNA test.

    See All 2 Answers
  • 1 Answer
    A

    Williams syndrome is diagnosed using both observable symptoms and tests. In infants, symptoms include colic, digestive problems, delayed developmental milestones, and distinctive facial features (a flat bridge of the nose; a large, open mouth with full lips; and a wide forehead). As the child grows, additional symptoms are observed, including dental problems (small teeth spaced too far apart and weak enamel); intellectual disability and/mild to moderate mental retardation; difficulty with visual-spatial activities such as putting a puzzle together; outgoing personalities; and excelling in speaking, music, and memorization. Tests to help check for this genetic condition may include genetic tests that look for missing genetic information (FISH and/or micro-array analysis), an ultrasound of the kidney, an echocardiogram with Doppler ultrasound, and a check of blood pressure.

     

  • 1 Answer
    A
    A answered
    Yes, it can be if it is not diagnosed early and treated. Because Marfan syndrome affects the connective tissues of the body, it has serious implications for the heart. The blood vessels, heart valves and other essential structures of the heart can be weakened by the disease. For those individuals with Marfan syndrome, if the heart is affected, this can become apparent in early childhood, or problems may not appear until later in the teenage or adult years. Therefore, continuing evaluation by a cardiologist is necessary throughout life.
     
    People with Marfan syndrome and enlargement of the aorta or significant valve problems are advised to avoid strenuous, competitive sports that might put too much stress on the heart.
  • 1 Answer
    A

    A physical exam, paired with family and medical history, usually includes enough information for a doctor to diagnose Ehlers-Danlos Syndrome (EDS). However, there are additional tests that can be done to confirm the diagnosis or identify the specific type of EDS. To test for vascular EDS, the most dangerous type, doctors can use genetic testing or a tissue biopsy. Doctors may also use an ultrasound of your heart (echocardiogram) to determine whether you have any of the EDS-associated problems with your heart valves.

  • 1 Answer
    A

    The effects of osteogenesis imperfecta (OI) range from mild to severe and often depend on which type of OI a person has. Type 1 is the most common and the mildest form of OI. Types 2, 3, 7, and 8 generally present more severe affects, while people with types 4, 5, and 6 are typically only moderately impacted by the disorder. In moderate cases, people with OI may suffer from a few broken bones as children, and then have even fewer after puberty, when their bones have had a chance to strengthen. In more extreme cases, children with OI may break a bone after even the most minor fall or tumble. They may also suffer from heart or lung diseases. The most severe cases of OI are lethal, and an infant will die either before childbirth or shortly after birth.

  • 2 Answers
    A

    Ehlers-Danlos Syndrome (EDS) does not affect children differently than adults. However it may take some work to help your child cope with EDS. They will be as susceptible to injury as adults, so you should try to discourage them from participating in rough sports, such as football. You should, instead, encourage them to participate in less dangerous activities. They may also need additional mental support in dealing with the management of a lifelong illness like EDS.

    See All 2 Answers