Genetics

Yawkey Center for Outpatient Care, Suite 6C
Phone: 617-726-1742 | Clinic: 617-726-1561 | Fax: 617-724-1911

Geneticists at MassGeneral Hospital for Children specialize 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 suspected 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.

A 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, but not limited to:

• 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 synddrome
• Down Syndrome
• Ectodermal dysplasia
• Ehlers Danlos syndrome
• Fetal alcohol syndrome
• Fragile X Syndrome
• Hemochromatosis
• Inherited hearing loss conditions
• Kabuki syndrome
• Lysososmal storage disorders
• Marfan syndrome
• Metabolic disorders
• Myotonic Dystrophy
• Neurofibromatosis
• Noonan syndrome
• Osteogenesis imperfecta
• Prader Willi Syndrome
• Stickler syndrome
• Velocardiofacial syndrome
• Williams Syndrome

Our clinical team of physicians, genetic counselors, postgraduate physicians in training, a dietician, and social workers 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. Family members other than the child initially diagnosed may be affected and diagnosis may influence parents’ decisions regarding subsequent pregnancies. At the Clinical Genetics Program at MassGeneral Hospital for Children, 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. MGHfC is the oldest hospital for children in Boston and has been well integrated into the care of the whole family at the MGH. As part of the Massachusetts General Hospital, we are an integral part of a world-renowned academic medical center and we collaborate with units throughout the hospital to ensure the best care for our patients.

Programs

• General Genetics Clinic at MGH
• Satellite Clinic at Newton-Wellesley Hospital
• Craniofacial / Cleft Lip and Palate Clinic
• Fragile X Multidisciplinary Clinic
• Williams Syndrome Clinic
• Down Syndrome Clinic for Adolescents and Adults
• Center for Connective Tissue Disorders In-Hospital Consultation Service for children and adults

At MassGeneral Hospital for Children, 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.

How to contact us

• To make appointments, call 617-726-1561, fax 617-726-1566, or email smassalski@partners.org
• In case of a medical emergency, dial 911; for urgent questions page our fellow at 617-726-2000 pager 3-6582
• Fill out questionnaires and either mail, email, fax them back to us or bring them with you