Metabolic Disorders in Children & Infants

The Clinical Genetics team conducts initial and follow-up outpatient consultations at Nicklaus Children's Hospital, formerly 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 Nicklaus Children's Dan Marino Outpatient 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 genetic and metabolic disorders in children, Clinical Genetics has several specialty clinics including:

The Neurofibromatosis Center was established in 1985 and evaluates and manages children and adults with a known or suspected diagnosis of Neurofibromatosis-type 1, Neurofibromatosis-Type 2, and Schwannomatosis. Weekly clinics are held at which time children received a complete evaluation and referrals are made to our team of experienced specialists.  The Neurofibromatosis Center at Nicklaus Children's Hospital, formerly Miami Children's Hospital, is part of the Children’s Tumor Foundation Neurofibromatosis Clinic Network.  Through this network, the NF Center participates in patient registries, clinical databases, and clinical trials for treatment of individuals with this condition.

In addition, to providing top notch clinical care, the NF Center participates in activities for patients and their families including family educational conferences, picnics, and swimming with the dolphins.  For questions or appointments, please call (305) 663-8595.

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

Neurogenetic or metabolic disorders in children, 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 for metabolic disorders in children and infants. 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 in children, 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 metabolic disorders.

For Metabolic emergencies or consults please contact: 786-624-4717.


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 Programs

Patients with a variety of genetic conditions are seen by a board-certified genetic counselor and clinical geneticist for counseling. Genetic counseling programs involve 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.

Diagnostic Laboratory Services

Clinical Genetics uses state of the art genetic testing to provide diagnostic information to families and develop the most effective treatment program. Nicklaus Children's Hospital has an onsite, state-of-the-art cytogenetics laboratory with a staff experienced in using specialized diagnostic tools, such as fluorescent in situ hybridization (FISH) and various specialized staining techniques to provide accurate interpretative results. Dr. Jayakar, a board-certified cytogenetist, assists with questions regarding results and clinical implications of abnormal findings. Our staff is highly qualified and licensed by the State of Florida. Chromosome results in the newborn period are provided within 4-7 working days. The laboratory accepts blood and bone marrow specimens for analysis.

Genetic Testing - Dr. Parul - Miami Children's Hospital
Meet Dr. Parul Jayakar Director of the Neuro-Genetic and Metabolic Program and the Miami Genetic Laboratories.