22q11.2 Deletion Syndrome Clinic

Overview

We welcome you to the 22q11.2 Deletion Syndrome Clinic at Massachusetts General Hospital. We provide state-of-the-art and evidence-based health care for patients of all people with 22q11.2 Deletion Syndrome of all ages.

Each patient with 22q11.2 Deletion Syndrome has a unique history and constellation of medical concerns. When you visit our clinic Dr. Goldenberg will meet with you and recommend evaluations based on your current needs, as well as ensure health care management recommendations based on the health care guidelines developed for people with 22q11.2 Deletion Syndrome. We list some of our key team members below, but also can accommodate patients with other medical concerns as needed.

We also offer consultations in a private setting for expectant parents who have received a prenatal diagnosis of 22q11.2 Deletion Syndrome.

Specialists at the Massachusetts General Hospital 22q11.2 Deletion Syndrome Clinic evaluate and treat patients of all ages with the following conditions:

• 22q11.2 Deletion Syndrome
• Atypical or Distal 22q11.2 deletions
• DiGeorge Syndrome
• Velo-Cardio-Facial Syndrome (VCFS)
• Conotruncal Anomaly Face Syndrome
• Autosomal Dominant Opitz G/BBB Syndrome

As a part of our comprehensive evaluation, our specialists also evaluate for many other medical conditions that can occur at higher frequency in people with 22q11.2 Deletion Syndrome including, but not limited to, the following:

• Anxiety
• Attention Deficit Hyperactivity Disorder (ADHD)
• Autoimmune Disorders
• Cleft Palate
• Congenital Heart Defects
• Constipation
• Depression
• Dysphagia (Swallowing Problems)
• Feeding problems
• Gastroesophageal Reflux (heartburn)
• Hypoparathyroidism or Hypocalcemia (low calcium levels)
• Thyroid disorders
• Immune Deficiency
• Learning Problems and Developmental Delay
• Obsessive Compulsive Disorder/Autism Spectrum Disorder
• Psychosis/Schizophrenia
• Scoliosis
• Seizures
• Velopharyngeal Insufficiency

Meet the Team

Clinical Director

• Paula Goldenberg, MD, MSW, MSCE

Cardiology

• Oscar Benavidez, MD
• Ana Rosales, MD

Dermatology

• Mariko Yasuda, MD

Endocrinology

• Deborah Mitchell, MD

Gastroenterology

• Kriston Ganguli, MD

Otolaryngology

• Christopher Hartnick, MD, Mass Eye and Ear Infirmary (craniofacial/airway)

Neurology

• Kalpathy Krishnamoorthy, MD

Neuropsychology

• Molly Colvin, PhD

Psychiatry

• Christopher McDougle, MD
• Michelle Palumbo, MD

Pediatric Speech, Language and Swallowing Disorders

• Cheryl Hersh, MS, CCC-SLP

Genetic Counselors

• Lauren Gotsell, MS, CGC
• Marcie Steeves, MS, CGC