Medical Genetics

About Us

The Division of Medical Genetics provides inpatient and outpatient consultation, counseling and medical care for children and adolescents with both rare and common genetic conditions. The rapid expansion of medical genetic knowledge and the availability of new genetic technologies allow us to offer a personalized genetic approach for the health and well-being of our patients across their lifespan. We also provide expanded carrier screening for inherited disease risk, as well as consultation for abnormal pregnancy findings and adult onset conditions.

We use the latest genetic information technology to deliver expert clinical evaluation, risk assessment, counseling and testing for a variety of genetic conditions. Many complex genetic disorders require the combined expertise of subspecialists, and we work closely with other WCM physicians in specialties including cardiology, neurology and oncology to address your needs in a comprehensive manner. Recognizing that genetic conditions can affect multiple members of the family, we are also available to address each family member's needs.

Our expertise includes:

• Preconception counseling and expanded carrier screening
• Genetic disorder and birth defect prenatal detection
• Congenital and childhood onset diseases with a genetic basis
• Continuity of care for patients with medical genetic conditions
• Evaluation of patients with a personal or family history of genetic conditions

We also diagnose and develop treatment plans for a myriad of conditions, including:

• abnormal genetic test results
• autism spectrum disorders
• birth defects and birth defect syndromes
• cancer predisposition syndromes
• chromosomal abnormalities
• developmental delay or intellectual disability
• family history of genetic diseases
• Fetal Alcohol Syndrome (FAS)

What Sets Us Apart

• We have appointment availability for outpatient consultations every day.
• We are available within 24-48 hours for urgent consultation.
• Physicians from all pediatric subspecialties are available for consultation and referral within our department.

Services & Programs

Bloom Syndrome Registry

Bloom syndrome is a rare genetic condition associated with growth concerns, skin abnormalities and an increased risk for cancer of many types. Our team provides diagnosis, consultation and treatment for patients with Bloom syndrome, and works closely with researchers around the world to evaluate diagnosis and treatment methods. Learn more about the registry.

Weill Cornell Brain and Spine Craniofacial Program

Within the WCM Craniofacial Clinic, we collaborate with colleagues from ENT and other specialty departments to provide a multidisciplinary approach for children and young adults with abnormalities of the head and neck - especially those with craniosynostosis, cleft lip and cleft palate. Learn more about the program.

Klinefelter Syndrome Care Center/ X and Y Chromosome Variations Program

The Weill Cornell Medicine (WCM) Klinefelter Syndrome Care Center offers multidisciplinary care for children and adults with Klinefelter syndrome and other X and Y chromosome variations. Co-directed by Dr. Lilian Cohen of Medical Genetics and Dr. Peter Schlegel of Urology, our program brings together a broad team of experts to offer our patients comprehensive evaluation and subspecialty care. Our goal is to provide the best care based on advances in health information and evidence-based treatment. We are part of the Association of X and Y Variations (AXYS) and the AXYS Clinic Consortium  with ongoing efforts to improve clinical care, education, and research.
Learn more about the Weill Cornell Medicine (WCM) Klinefelter Syndrome Care Center.

Neurogenetics Clinic

We work with researchers at the Feil Family Brain and Mind Research Institute and the Division of Child Neurology to investigate the causes and consequences of neurological conditions including epilepsy, intellectual disability and other conditions that affect the brain and nervous system.

Diagnosis & Treatment

Our primary focus is the diagnosis and treatment of genetic or suspected genetic conditions. To accomplish this, we obtain detailed medical and family history, perform comprehensive physical examinations and employ the latest laboratory testing to diagnose patients in our clinic.