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Genetics Program

The Genetics Program at MassGeneral Hospital for Children specializes in the evaluation and care of patients who may have health problems with a genetic or metabolic basis.

To schedule an appointment with a geneticist, please call 617-726-1561


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 dyplasias
  • 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
  • Fetal alcohol syndrome
  • Fragile X Syndrome
  • Hemochromatosis
  • Inherited hearing loss conditions
  • Kabuki syndrome
  • Lysosomal storage disorders
  • Marfan syndrome
  • Metabolic disorders
  • Myotonic Dystrophy
  • Neurofibromatosis
  • Noonan syndrome
  • Osteogenesis imperfecta
  • Pitt Hopkins Syndrome
  • Prader Willi Syndrome
  • Stickler syndrome
  • Turner Syndrome
  • 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.

About this Program


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 Education

Meet the Team


Contact Us

MGHfC Genetics Program

Yawkey Center for Outpatient Care

Suite 6C55 Fruit Street Boston, MA 02114
  • Near Public Transit
  • Accessible
  • Phone: 617-726-1561
  • Fax: 617-726-1566

  • To make appointments, call 617-726-1561, fax 617-726-1566, or email
  • In case of a medical emergency, dial 911; for urgent questions page our fellow at 617-726-2000 pager 3-6582

To schedule an appointment with a geneticist, please call 617-726-1561

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