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
- Huntingtondisease
- Lipid disoders
- Prenatal diagnosis
- Sickle cell disease
