Genetic diseases in children: we’re prepared for anything

The genomic medicine program specializes in helping children with complex needs and birth defects on every step of their journey. We help families searching for the causes of their child’s medical problems as well as those who have already received a specific diagnosis and are looking for support and treatment.

When you first visit the genetics clinic, you and your child will meet with a genetics clinician and a genetic counselor. We’ll have already reviewed your child’s medical history and we will ask to hear your family’s story. Together we try to find causes for your child’s differences. We explain next steps in management and treatment. We will provide information and guidance to you and your family. This includes:

  • Discussing how your family health history may play a role in your child’s genetic condition
  • Explaining genetic and lab test results
  • Helping you cope with the emotional side of a genetic disorder diagnosis
  • Coordinating care with other specialists who have experience treating children with similar conditions

New discoveries and diagnoses are being made in genetics all the time. We will provide you with the most up to date research and health care guidelines pertaining to your child’s condition. Here are some of the more common conditions we see:

  • Abnormal newborn screening results
  • Ambiguous genitalia
  • Angelman syndrome
  • Anosmia (impaired sense of smell)
  • Alagille syndrome
  • Autism spectrum disorders that may have a genetic cause or component
  • Birth defects
  • Birthmarks
  • Brain abnormalities
  • Cardiac arrhythmias
  • Cardiovascular conditions, such as cardiomyopathy, atrioventricular septal defect, hypoplastic left heart syndrome, and ventricular septal defect
  • CHARGE syndrome
  • Chromosomal abnormalities
  • Cognitive impairment
  • Connective tissue abnormalities (abnormal bones or joints)
  • Craniofacial abnormalities such as Pierre Robin sequence
  • Cystic fibrosis and positive newborn screening results for cystic fibrosis
  • Dental abnormalities
  • Developmental delays that may have a genetic component
  • Down syndrome
  • Ehlers-Danlos syndrome
  • Epilepsy and seizure disorders
  • Eye problems
  • Failure to thrive
  • Fragile X syndrome
  • Family history of genetic condition
  • Hearing loss
  • Hematology/oncology (cancer and blood) conditions
  • Holt-Oram syndrome
  • Hypertrophic cardiomyopathy
  • Klinefelter syndrome (47, XXY)

Genomic medicine services

There’s no one else with the exact same genetic makeup as your child. While there are countless genetic conditions and disorders, each child is unique in how the condition affects him or her.

We pride ourselves on delivering personalized care based on your child’s unique diagnosis, symptoms, development and more. Here’s a snapshot of some of the services you may encounter when visiting the genomic medicine clinic:

  • Diagnose and evaluate genetic conditions through a physical exam and/or genetic testing
  • Provide clinical management of inherited genetic disorders
  • Connect you with community resources and support groups
  • Coordinate appointments with pediatric subspecialists
  • Use targeted treatments such as enzyme replacement therapy, which helps manage symptoms of lysosomal storage diseases
  • Meet with a genetic counselor, who provides information and education about rare genetic disorders, inheritance patterns and recurrence risks
  • Write summaries for your child’s primary care clinician and other clinicians involved in your child’s care

Multi-disciplinary clinics for genetic conditions

In addition to the genetics clinic, we offer multidisciplinary clinics, which are dedicated to providing concentrated, coordinated care for specific genetic conditions. These include:



At Children’s, we know how important reliable information about conditions and illnesses is.