
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
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