Medical Genetics and Genomics

Down Syndrome Program

Down Syndrome child patient

People with Down syndrome often have special healthcare needs. Having Down syndrome can be associated with unique medical, developmental, and psychosocial challenges. The American Academy of Pediatrics has developed care guidelines for children with Down syndrome to ensure their unique health challenges are monitored and the best care possible is delivered. Adhering to these guidelines and working with your child’s pediatrician, the Mount Sinai Down Syndrome Program can help your child live the best possible life.

The Condition

Down syndrome is the most common chromosomal condition. It happens when a fetus develops an extra full or partial chromosome 21. According to the Centers for Disease Control and Prevention, there are more than 200,000 people living with Down syndrome in the United States.

Services We Offer

At the Mount Sinai Down Syndrome Program, our services do not replace primary and pediatric care. We are a collaborative team working with your primary care physician/pediatrician and other sub-specialists as needed to provide evidence-based holistic clinical care and education to children with Down syndrome and their caregivers. Our services include:

  • Ensuring your child with Down syndrome is up to date on all the latest recommended screening guidelines developed by the American Academy of Pediatrics
  • Monitoring for signs of complications that often affect individuals with Down syndrome in coordination with the primary care doctor
  • Referrals to Mount Sinai sub-specialists who work with patients with Down syndrome
  • Developmental assessment and recommendations for specialized therapies

If your child needs additional specialist care, we can tap into Mount Sinai’s wide network of experts. We work with a variety of Mount Sinai specialists who are trained in working with children with Down syndrome. We work most closely with experts in these fields:

  • Audiology
  • Cardiology
  • Gastroenterology
  • Hematology
  • Neurology
  • Ophthalmology
  • Pulmonology

To request an appointment, please call 212-241-2934.

Meet Our Team

The Down Syndrome Program team has years of experience helping children and families with Down syndrome. We offer compassionate and knowledgeable care.

Ibrahim Elsharkawi
Assistant Professor in Genetics and Genomics Sciences and Pediatrics, Dr. Elsharkawi attended undergraduate and medical school at the Royal College of Surgeons in Ireland-Bahrain, followed by a two-year research fellowship in clinical genetics at Massachusetts General Hospital, primarily within the MGH Down Syndrome Program. He also completed a combined residency in pediatrics and medical genetics at Washington University in St. Louis, a fellowship in Mitochondrial Medicine at the Children's Hospital of Philadelphia, and a fellowship in Medical Biochemical Genetics at Harvard Medical School. Dr. Elsharkawi is board certified in pediatrics, clinical genetics and genomics, and medical biochemical genetics.

Rachel Kaplan, NP
A certified Nurse Practitioner in Pediatrics, Rachel completed her undergraduate degree at Vanderbilt University in Child Development.  Rachel has her Master of Education in Applied Child Studies and completed her graduate internship in the Vanderbilt Children’s Down Syndrome Clinic.  She attended nursing school at Vanderbilt University and completed the LEND Program for Leadership Education in Neurodevelopmental Disabilities.  Prior to joining Mount Sinai Genetics program, Rachel worked at Vanderbilt Children's Hospital and Weill Cornell Medicine/New York Presbyterian in developmental and behavioral pediatrics for over a decade.  At Mount Sinai, Rachel is also part of the Lysosomal and Mitochondrial disorders care team.