The clinic's team of cardiovascular specialists and geneticists provides the following clinical services:
Syndrome diagnosis, genetic counseling and management of malformation syndromes including:
- Marfan Syndrome and other connective tissue disorders
- Noonan Syndrome
- Velocardiofacial (VCF)/22d deletion syndrome
- chromosomal disorders
- unknown syndromes
Second opinion consultations and genetic evaluation for the following conditions:
- dysmorphic features
- cardiac and extra-cardiac malformations
- failure to thrive
- developmental delay
Genetic evaluation and counseling for familial or potentially familial conditions:
Cardiovascular Genetics Clinic
The Cardiovascular Genetics Clinic at Boston Children's Hospital provides clinical care, information and resources for individuals and families with cardiovascular and genetic conditions.
- genetic evaluation
- syndrome diagnosis
- management of malformation syndromes
- genetic testing
- genetic counseling
Genetics Clinics For Specific Syndromes
The clinical team offers specialized services and consultation to cardiology patients in the following syndrome-specific clinics:
- Williams Syndrome
- Marfan Clinic
- Noonan Syndrome
- Velocardiofacial (VCF)/22q deletion syndrome
Affiliated Programs at Boston Children's Hospital:
Williams Syndrome Clinic
The Williams Syndrome Clinic provides clinical care, counseling and information for individuals and families diagnosed with Williams Syndrome.
What is Williams Syndrome?
Williams Syndrome is a rare genetic condition (estimated to occur in 1/20,000 births) that causes medical and developmental problems.
For more information on Williams Syndrome, including common characteristics, visit the Williams Syndrome Foundation website.
Visiting Boston Children's Williams Syndrome Clinic
Most families choose to visit the clinic soon after their child is diagnosed.
Many children are diagnosed with Williams Syndrome in infancy. If a child is diagnosed within the first 12 months of life, there is not a pressing need to have a full clinical workup. It is important, however, that the child have a medical exam.
This is an important time, as a child begins to approach many early developmental milestones such as walking, talking and toilet training. At this time, the clinic team can assess an early intervention program and make recommendations as parents begin to consider schooling and daycare options for their child.
To schedule a visit to the clinic, contact Liz Berryan at 617-355-8794.
The Williams syndrome clinic staff is made up of a multidisciplinary team of specialists including:
- A cardiologist to evaluate the presence of a heart defect.
- A geneticist and genetic counselor to help establish a diagnosis, keep you up to date with the latest medical information and assess recurrence risk and prenatal diagnosis.
- An audiologist to evaluate and help manage hearing loss.
- A behavioral psychologist to assess your child's social and behavioral functioning.
- A psychologist to help identify developmental abnormalities, determine school readiness and discuss treatment options.
- A psychopharmacologist to suggest medication strategies and/or modifications for reducing and managing psychological and behavioral problems.
- An occupational therapist to plan treatment activities that will help your child grow mentally, socially and physically.
- A physical therapist to help develop gross motor skills. Since flexibility, balance, strength, motor learning and coordination may be affected by the syndrome in varying degrees, these areas are emphasized both in evaluation and treatment.
- A speech-language pathologist to provide assessment of language, play skills, articulation, fluency, voice, resonance, oral motor skills, feeding and swallowing.
- A gastroenterologist and nutritionist to help resolve feeding issues including reflux, refusal, disordered suck or swallow, vomiting, colic and growth concerns.
- A dentist to ensure good oral health.
- Anophthalmologist to provide diagnosis and treat a variety of eye diseases and vision problems.
- The Augmentative Communication Program at Boston Children's Hospital which provides comprehensive, state-of-the-art evaluation and treatment for children and adults with congenital or acquired disorders affecting hearing, voice and speech.