Genetics

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Genetics is the study of how traits and diseases pass from parents to children. Many conditions are passed from parents to children, including some birth defects and developmental disabilities. Seattle Children's has one of the largest programs in the United States devoted to genetics research and care for children with genetic conditions. We are home to the oldest and most well-known referral center for genetic disorders in the Pacific Northwest. Seattle Children’s is also designated a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD). We are the only pediatric hospital in the Pacific Northwest to hold this designation.

Because conditions related to genetics are so wide-ranging, our doctors come from many backgrounds and medical specialties, including human and medical genetics, neurology, developmental and behavioral pediatrics, developmental biology and biochemistry. At Seattle Children's Genetics program, a team made up of experts in their fields, including surgeons, therapists and social workers, will see your child and work with you to understand any genetic conditions your child may have.

Conditions We Treat

Hundreds of medical conditions are at least partly genetic. Here are some of the conditions we treat:

  • Neurofibromatosis

    Neurofibromatosis is a group of disorders of the nervous system that most often affect the growth and development of nerve cells. The disorders can cause tumors that are not cancerous (benign tumors) to grow on nerves. They can also produce problems in bones and skin. Learn more.

  • Chromosomal conditions

    Chromosomes are the part of cells that contain genes, which carry information passed from parents to children. Health problems can arise when the number or structure of chromosomes is not normal. For example, Down syndrome occurs when a person is born with an extra copy of Chromosome 21. It often leads to lifelong developmental and intellectual delays. Turner syndrome occurs when girls are born with only one X chromosome instead of two or are missing part of an X chromosome. Girls with the syndrome do not go through sexual development properly.

  • Multiple congenital anomalies (MCA)

    Babies with MCA are born with either two or more major problems, such as a heart defect or a missing limb, or with three or more minor problems, such as a club foot or fused fingers.

  • Dysmorphic or unusual features

    Dysmorphic features are body parts that do not form properly. Sometimes dysmorphic features can be a sign of other genetic conditions.

  • Congenital differences

    Congenital means present at birth. Congenital differences are problems that babies are born with, such as heart defects or defects in the way other organs form.

  • Developmental delays

    Children who develop at a slower rate compared to other children in their age group may have developmental delays. Developmental delays can refer to the rate at which children's senses develop, how they grow socially or emotionally, or how fast they learn language and other skills.

  • Deafness and hearing loss

    The hearing system is mature when babies are born. Children with normal hearing begin to learn language as soon as they are born. Some children are born with deafness or hearing loss, though hearing loss can develop after birth, too. In about half of children born with hearing loss, there is a genetic cause.

  • Growth disorders

    A growth disorder is any problem in babies, children or teens that prevents them from what is considered normal growth. Many conditions can disrupt the way your child grows, including genetic problems. For example, genetic abnormalities can cause one side of the body to grow larger than the other (hemihypertrophy) or interrupt the growth of an unborn baby's brain so that the head is smaller than usual (microcephaly).

  • Family history of genetic conditions

    Genetic conditions are passed from parents to children (inherited), so many members of your family may have the same condition. Understanding your family's history of genetic conditions can help in diagnosis and treatment.

  • Other conditions

    We also treat:

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