Expertise with rare genetic syndromes
Getting to the root of genetic disorders can, in many cases, have important implications for your child’s treatment. The Genetics and Genomic Medicine Program at St. Louis Children’s Hospital has expertise in diagnosing and treating the full spectrum of genetic disorders, including rare genetic disorders.
For instance, with inborn errors of metabolism, a child has the best outcomes only if he or she receives a diagnosis and can begin receiving care quickly before problems caused by non-functioning metabolism buildup.
Advanced DNA sequencing
We offer exome sequencing, a test in which the coding regions for the majority of a person’s genes are examined all at the same time. Exome sequencing is the most powerful genetic test currently available to aid in patient diagnosis.
We counsel families about the benefits and risks of genetic testing. For example, genetic testing may reveal information that is not directly related to the patient’s current health concerns, such as health risks that may not occur until adulthood.
We work with families after genetic testing to help them understand — and become more comfortable with — the genetic findings that a test can uncover.
Team-based, multidisciplinary care
Many genetic syndromes affect multiple parts of the body. That’s why our program collaborates with a variety of specialists in different fields to provide your child with the most comprehensive care possible.
Our program supplements a thorough physical examination, medical history and family history with a variety of measurement techniques and screening studies to determine a diagnosis and treatment plan.
Because many genetic disorders can affect a child’s nutrition, our program collaborates with registered dietitians specially trained in the dietary management of metabolic diseases.
For example, since the effects of 22q (also called DiGeorge syndrome and 22q11.2 deletion syndrome) often cause gastrointestinal difficulties — including constipation and GERD — our registered dietitians can work with you and your child to develop nutritional strategies to address those challenges.
Specialty genetic clinics
We have clinics dedicated to the treatment of syndromes that require coordination among multiple specialists:
Skeletal Dysplasia Services: provides care for rare skeletal disorders, including conditions such as achondroplasia and osteogenesis imperfecta. The clinic coordinates care with genetics, orthopedic surgery, neurosurgery and radiology at a single hospital visit.
Williams Syndrome Center: provides a team approach in which multiple doctors experienced in Williams syndrome work together to maximize a child’s health and development.
Down Syndrome Center: provides comprehensive care for Down syndrome to ensure that each child’s medical, developmental and psychological needs are met. The clinic coordinates visits with multiple specialists in one location — and in an efficient manner — to make your visit as effective and convenient as possible.
Undiagnosed Mendelian Disorders Clinic: evaluates children and adults with severe and complex medical conditions for which a diagnosis has not been made by traditional testing methods (e.g., a physical exam, imaging studies, metabolic evaluation, single gene testing or chromosomal microarray analysis).