Center for Clinical Genetics
and Genomics

Clinical Dysmorphology and Inborn Errors of Metabolism (IEM) Clinics

The Clinical Dysmorphology and Inborn Errors of Metabolism (IEM) Clinics provide comprehensive clinical genetics services to the patients referred both for inpatient and clinic evaluations, ranging from newborn to adults of all ages. The patient and families are referred for genetics evaluation by prenatal, newborn nurseries, primary care providers and many consultants for individuals with birth defect(s), abnormal growth patterns, inherited connective tissue disorders, developmental delays and intellectual disabilities, autism spectrum and psychiatric diseases as well as the ones afflicted by complex and undiagnosed disorders. The genetics assessment involves a process where medical records are reviewed and a thorough clinical examination is completed including assessment of surface morphology that may provide information of “dysmorphology” (physical features not usually found in individuals of the same age or ethnic background) and may lead to a specific clinical diagnosis. Invariably the clinical examination requires further diagnostic evaluations, consultations and confirmation of the diagnosis by various testing utilizing varied laboratory techniques of chromosome analysis, molecular cytogenetics known as microarrays and molecular diagnostic techniques of single gene, gene panel or exome analyses available on clinical basis.

These comprehensive clinical genetic services are provided by the medical genetics team comprising of many members including a clinical geneticist, genetic counselor, and a social worker. Patients get an initial diagnostic evaluation as well as follow-ups through genetics clinic. The patients and families come for management and follow ups including genetic counseling and also get referred to the appropriate services and consultations. These include the cleft-craniofacial, neurology, neurosurgery, child developmental unit, cardiology, ophthalmic-genetics, endocrinology, rheumatology specifically for connective tissue disorders (Marfan, Ehlers-Danlos, Stickler syndromes), physical medicine and rehabilitation services to name a few. For many of the complex cases, availability of the needed multispecialty services is also facilitated by the appointment navigators in order to accommodate and coordinate the multiple appointments. Please complete a New Patient questionnaire or a Patient Follow-Up Form and bring it to your Genetic Evaluation appointment.

Contact Information

Pediatric Genetics

Childrens’s Hospital of UPMC
4401 Penn Avenue
Pittsburgh, PA 15224
412-692-5070
412-692-6472
Website
8:00 am-4:30 pm M-F