Medical Genetics

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
• Albinism
• 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
• Hemochromatosis
• Inherited hearing loss conditions
• Kabuki syndrome
• Lysosomal disorders
• Marfan syndrome
• Metabolic disorders
• Myhre Syndrome
• Myotonic Dystrophy
• Neurofibromatosis
• 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.

Programs

• 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.

Patient Resources

View the full collection of patient resources from the Genetics Program at MGfC.