Children’s specializes in diagnosing genetic disorders in children—in some cases, before birth. Many genetic disorders can be treated or managed with the right care. We have expertise in a wide range of genetic disorders, including:
Other genetic disorders we treat include:
TS (or TSC) is caused by defects (called mutations) on one or both of two genes: TSC1 and TSC2. TS causes benign tumors to grow in the brain and on other vital organs, such as the kidneys, heart, eyes, lungs and skin. It usually affects the central nervous system. Symptoms can include seizures, developmental delay, behavioral problems, skin abnormalities and kidney disease. TS was once called epiloia or Bourneville's disease.
NF refers to genetic disorders that cause tumors to grow in the nervous system—on nerves and, less frequently, in the brain and spinal cord. NF can cause skin changes, bone deformities and other health issues. Although it can be inherited, up to half of new cases arise through mutation (change) in a person’s genes. Once this change has taken place, the gene can be passed on to future generations.
There are three forms of neurofibromatosis:
Lipid storage diseases, or the lipidoses, are metabolic disorders inherited from one or both parents who carry a certain defective gene. This gene regulates a protein in a class of the body’s cells. These diseases cause harmful amounts of fatty materials (lipids) to gather in various cells and tissues in the body. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen and bone marrow.
Fragile X syndrome (FXS) is caused by changes in a gene called FMR1. This gene is responsible for making a protein that is needed for normal brain development. People with FXS do not have any of this protein. Symptoms can include:
Inherited metabolic disorders are genetic conditions resulting in problems metabolism, the chemical reactions that convert food to energy and building blocks for protein and other substances. These disorders are usually caused by a defective gene that results in an enzyme deficiency. They can range from life-threatening disease to conditions that can cause muscle damage and other less severe symptoms. Some examples of metabolic disorders include Tay-Sachs disease, phenylketonuria and glycogen storage diseases.
Single gene defects are caused by mutations in one gene. They can be passed down, or can appear for the first time in the sperm or egg. Sickle cell is one example of a single gene disorder.
Multifactorial inheritance means that many factors contribute to an inherited health problem. The factors are usually both genetic and environmental. A combination of genes from both parents, in addition to unknown environmental factors, can work together to cause certain conditions. Neural tube defects and hip dysplasia are two examples of multifactorial conditions.
A teratogen is any agent, such as a drug or an illness, that can interfere with the development of an embryo and lead to birth defects. One well-known teratogen is alcohol, which is why drinking any alcohol during pregnancy is dangerous.
Inheritance patterns that are not chromosomal, single gene or multifactorial are referred to as nontraditional inheritance patterns. Some examples of nontraditional inheritance patterns include Prader-Will syndrome, Angelman syndrome and Leber’s optic atrophy.
Our geneticists offer testing for the full range of genetic disorders, from before birth to early adulthood. We can refer to other Children’s specialists to ensure your child gets care that meets all his needs, and to help you and your family cope with any related challenges.
One of our most vital and widely used services is testing for birth defects. We offer:
We can help determine whether your child has or is at risk for a genetic disorder or disease through:
Diagnostic testing is used to identify or confirm the diagnosis of a disease or condition, in most cases providing a definite “yes or no” answer. It is sometimes helpful in determining the course of a disease and next steps.
Predictive genetic testing determines the chances that a healthy person might develop a certain disease. Predictive testing is available for some diseases that may not show up until adulthood, such as some types of cancer, cardiovascular disease and some single gene disorders.
Presymptomatic genetic testing determines whether a person with no symptoms, but with a family history of a disease, has the genes associated with the disease.
Carrier testing can determine whether a person carries a copy of an altered gene for a particular disease. The disease may be autosomal recessive, which means a person has the disease only if two copies of the altered gene are inherited. Couples who both carry the same autosomal recessive gene have a 25 percent chance (with each pregnancy) of having a child with that disease.
A recessive disease may also be X-linked recessive, which means the altered gene is located on the X chromosome. Since females have two X chromosomes, girls and women can be carriers of a gene on the X chromosome but can be unaffected. Their children could still be at risk.
If a man has the altered gene on his X chromosome and does not have the normal copy of the gene on the Y chromosome, then he is usually affected with the disease. Carrier testing for X chromosome-linked conditions is usually done only in females.
Prenatal diagnosis is used to identify a genetic disease or condition before a baby is born. Prenatal testing can include maternal serum screening, ultrasound (sonograms), amniocentesis, chorionic villus sampling (CVS) and percutaneous umbilical blood sampling (PUBS).
Preimplantation studies are used after an in vitro fertilization to check for a genetic disease or condition in an embryo before it’s implanted into the mother's uterus.
Newborn screening can detect certain genetic diseases so that treatment and management can begin as soon as possible.
Physicians from many specialties care for patients with genetic diseases. As we learn more about these complex disorders, ophthalmologists, neurologists, endocrinologists, craniofacial surgeons, cardiologists and rheumatologists are becoming more knowledgeable about genetic diseases and considering their possibility more often. These doctors refer patients to our Children’s Genetics team for diagnosis and other services.
Your child will most likely be seen first in one of our general genetics clinics. If diagnosed with a specific disorder, he may then be referred to a multidisciplinary clinic focusing on that disorder. For example, we have clinics for metabolic disorders, neurofibromatosis, Down syndrome, fragile X and lysosomal storage disease.
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Support groups and other resources can be helpful for children and families affected by a genetic disorder. Here are some excellent places to start:
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