Overview

The Division of Clinical Genetics at Miami Children's Hospital provides expert diagnosis, counseling, and treatment of children with a wide range of genetic conditions. A clinical geneticist and genetic counselor evaluate infants and children with developmental delays, unusual facial features, metabolic disorders, seizures, craniofacial anomalies, and failure to thrive. These are some of the reasons for which children are referred for evaluation by geneticists. Prenatal patients are also seen for genetic counseling in advance of a planned pregnancy as well as for potential genetic problems in an ongoing pregnancy.

Specialty Programs and Clinics

The Clinical Genetics team conducts initial and follow-up outpatient consultations at Miami Children's Hospital. Inpatient consultations are performed by the clinical geneticist on call at all times. Genetics services are provided in Miami-Dade, Broward, Palm Beach and Monroe counties with a satellite clinic at the Miami Children's Hospital Dan Marino Center in Weston. Prenatal patients are also seen as necessary for potential fetal genetic anomalies identified through ultrasound, prenatal testing, or family history.

To evaluate, manage, and treat our patients with specific needs, Clinical Genetics has several specialty clinics including:

• Neurofibromatosis Center - This center evaluates and manages children with a suspected or confirmed diagnosis of neurofibromatosis, a condition that presents with multiple birthmarks and tumors at a later age. These families are given the most recent information regarding testing, treatment, and research efforts and receive diagnostic and counseling services.
  
  
• Craniofacial Center - A multidisciplinary team of health professionals evaluates and manages children with craniofacial anomalies through this state-designated Craniofacial Center. The geneticists perform diagnostic evaluations and offer patients the most recent diagnostic testing and genetic counseling in these areas.
  
  
• Division of Genetics and Metabolism
  Children with Neurogenetic/Metabolic disorders, such as Phenylketonuria(PKU ), Maple Syrup Urine Disease(MSUD), Urea Cycle defects, seizure disorders and progressive neurodegenerative disorders are now treated through MCH-Brain Institute's newly established multidisciplinary Neurogenetics/Metabolic Program. The Metabolic team comprises of a neurogeneticist, neurologist, neuro-radiologist, neuro-ophthalmologist, and metabolic nutritionist. Through a team approach, the Neurometabolic Program provides comprehensive services that enhance the delivery of tertiary care to these children and their families. Inpatient care includes extensive diagnostic capability backed up by treatment modalities tailored to the child's needs that are not available elsewhere in South Florida. During the clinics, held twice monthly, the patient and family meets with the team to ensure that the child's collective care needs are being met thus eliminating the need for multiple appointments with various specialists.
  The team is also working towards educating physicians and allied health professionals in the tricounty area to better recognize early signs of metabolic disorders, thus enabling them to access the expertise available through MCH-Brain Institute. With early detection, children and families can be spared most of the severe complications and morbidity associated with these disorders.
  
  For Metabolic emergencies or consults please contact: 305-669-5832.
  
  For appointments, please contact Giselle Bisbal at (305) 666-6511 ext. 3552 or email giselle.bisbal@mch.com.
  
  Team Members:
  Parul Jayakar, MD - Neurogenetics, Director of Neurogenetics/Metabolic Program
  Elza Vasconcellos, MD - Neurologist, Co-Director of Neurogenetics/Metabolic Program
  Gustavo Charria, MD - Neurologist, Co-Director of Neurogenetics/Metabolic Program
  Cleve Howard, MD - Neuro-Ophthalmologist
  Nolan Altman, MD - Neuro-Radiology
  Jeanette Peralta, RD - Metabolic Nutritionist
  Pilar Genaro, ARNP - Clinic Nurse Practitioner
  Giselle Bisbal - Clinic Coordinator
  
  
• Dysmorphology - Children with unusual physical characteristics, such as unusual facial features, body asymmetry, and skin anomalies, are evaluated through detailed physical examination and subsequent genetic testing for diagnosis of genetic conditions. Extensive genetic counseling is provided as genetic diagnoses are made.
  
  
• Genetic Counseling - Patients with a variety of genetic conditions are seen by a board-certified genetic counselor and clinical geneticist for counseling. This involves gathering detailed information regarding medical and family history, assessing risk for offspring and family members, discussing the origin and natural history of the issue, and describing genetic testing options. Indications for referral include family history of a genetic condition, previous pregnancy with an abnormality/genetic condition, recurrent pregnancy loss, teratogen exposure, increased risk for genetic condition based on ethnicity, advanced maternal age, abnormal prenatal testing (screening or diagnostic), and ultrasound anomalies.

To make an appointment or receive additional information about Clinical Genetics services at Miami Children's Hospital, please call (305) 663-8595. Services are provided in Miami-Dade and Broward Counties.