Who should make an appointment?

Our team has expertise in the diagnosis and management of patients with a wide variety of genetic conditions and/or constellation of medical problems. Typically, reasons for referral include:

●    Abnormal newborn screening results
●    Birth defects
●    Chromosome anomalies
●    Connective tissue disorders
●    Craniosynostoses
●    Developmental delay/mental retardation
●    Hearing loss
●    Hypotonia
●    Inborn errors of metabolism
●    Skeletal dysplasias
●    Tumor disorders

Individuals with family members who have a genetic condition are also referred to clarify their risk for inheriting and/or passing on the genetic condition.

There are also genetic services located outside the Institute of Genetic Medicine, but within the Johns Hopkins University and/or Kennedy Krieger Institute. Some of these specialty clinics include:

●    Arrhythmogenic Right Ventricular Dysplasia (ARVD)
●    Ataxia Telangectasia (AT)
●    Breast, Ovarian, and Colon Cancer
●    Cystic fibrosis
●    Down syndrome
●    Familial cardiomyopathy
●    Hemophilia
●    Huntington disease
●    Lipid disoders
●    Prenatal diagnosis
●    Sickle cell disease