Medical Genetics Program
Yawkey Center for Outpatient Care
55 Fruit Street, Suite 6C
Boston, MA 02114
In case of a medical emergency, dial 911. For urgent questions page our fellow at 617-726-2000, pager 3-6582.
Explore This Treatment Program
Care During COVID-19
Our dedicated physicians, nurses and staff are committed to providing the best possible care for children. We have taken unprecedented steps to ensure office visits and procedures are welcoming and safe. Your child’s health and safety is our top priority. Learn more.
About the Program
The Genetics Program specializes in the evaluation and care of patients who may have health problems with a genetic or metabolic basis. These conditions can include the care of a newborn baby with a birth defect, a newborn with a metabolic condition detected by newborn screening, an older child with a developmental problem, a pregnant woman carrying a baby with a birth defect and suspected genetic condition, and an adult with a family history of an adult-onset genetic condition.
Comprehensive Range of Services
Our staff includes physicians board-certified in clinical genetics and trained in metabolism with extensive experience treating the comprehensive range of genetic conditions, including:
- Achondroplasia and other skeletal dysplasias
- Alagille syndrome
- Angelman syndrome
- Autism spectrum disorders
- Beckwith Wiedemann syndrome
- Bardet-Biedl syndrome
- Charcot Marie Tooth disease
- Chromosomal disorders such as Klinefelter Syndrome, Turner syndrome, trisomy 18, trisomy 13, cri du chat syndrome and other chromosome deletion syndromes
- Cleft lip and palate disorders
- Cornelia de Lange syndrome
- Costello syndrome
- Down Syndrome
- Ectodermal dysplasia
- Ehlers-Danlos syndrome (genetic testing)
- Fetal alcohol syndrome
- Fragile X Syndrome
- Inherited hearing loss conditions
- Kabuki syndrome
- Lysosomal disorders
- Marfan syndrome
- Metabolic disorders
- Myhre Syndrome
- Myotonic Dystrophy
- Noonan syndrome
- Osteogenesis imperfecta
- Pitt Hopkins Syndrome
- Prader Willi Syndrome
- Stickler and Marshall syndromes
- Velocardiofacial syndrome
- Williams Syndrome
Our clinical team of physicians, genetic counselors, postgraduate physicians in training, social workers and a dietician provides families with diagnosis, treatment, genetic counseling and follow-up care in a supportive environment. Our state-of-the-art genetics laboratories and participation in current research ensures our patients the latest testing and treatment options.
Genetic disorders are chronic and in some cases life-threatening. In addition to the diagnosed child, family members may be affected and diagnosis may influence parents’ decisions regarding subsequent pregnancies.
We are equipped to treat the whole family, from diagnosis to counseling and follow-up care. We have specialists who are trained in the diagnosis, genetic counseling and care of the genetic conditions specific to each stage of life.
As part of Massachusetts General Hospital, we are an integral part of a world-renowned academic medical center and we collaborate with specialty units throughout the hospital to ensure the best care for our patients.
- General Genetics Clinic at Mass General
- Cleft Lip and Craniofacial Clinic
- Down Syndrome Program
- Hereditary Hemorrhagic Telangiectasia (HHT) Center
- Lysosomal Storage Disorders Program
- Myhre Syndrome Clinic
- Pitt Hopkins Clinic
- Stickler Syndrome Clinic
- 22q.11 Deletion Syndrome Clinic
- Turner Syndrome Clinic
- Williams Syndrome Clinic
We know that the time of your child’s diagnosis and illness is a very stressful one and we strive to provide an open, welcoming environment. We have a friendly, welcoming environment and staff dedicated to making children and their families feel at ease. We believe that no one knows a child as well as the parent does: parents, along with primary care providers, become our partners in a child's care and have an active voice in all treatment plans.
View the full collection of patient resources from the Genetics Program at MGfC.
Meet our board-certified physicians and care providers.
- Department of Medicine
- Attending physician, Division of Medical Genetics and Metabolism
- Director, New England Regional Center for Chromosome 22
- Director, Stickler/Marshall Syndrome Clinic
- Assistant in Pediatrics, Mass General for Children
- Assistant Professor of Pediatrics, Harvard Medical School
- Emeritus Unit Chief, Medical Genetics, Pediatric Service
- Emeritus Director, Genetic Counseling & Screening Services,
- Perinatal Diagnostic Unit, Obstetrics Program
- Assistant Professer Harvard Medical School
- Director, Mitochondrial Disease Program
- Director, Lysosomal Storage Disease Program
- Professor of Pediatrics, Part-time, Harvard Medical School, Dept. of Pediatrics
- Co-Director, Turner Syndrome Program
- Co-Director, Myhre Syndrome Clinic
- Professor of Pediatrics (Emeritus) Harvard Medical School
- Department of Pediatrics
- Clinical Geneticist
- Director of Quality Improvement Research, Down Syndrome Program
- Director, Down Syndrome Program
- Emma Campbell Endowed Chair on Down Syndrome
- Associate Professor, Harvard Medical School
- Chief of Medical Genetics and Metabolism, MGH
- Attending Physician in Pediatric Hematology/Oncology
- Co-Director Pitt Hopkins Clinic
Schedule a Virtual or Telephone Visit
Care teams across Mass General for Children are available to provide care via phone or online video visits. Call 888-644-3248 to learn more.
Our Safe Care Commitment
Learn about the unprecedented steps Mass General for Children has taken to ensure that we are welcoming and safe for all medical care.
COVID-19 Resources for Families
Articles and Q&As from providers across MGfC on how to take care of your children and yourself during the COVID-19 pandemic.