When Harlow was 9-months-old, she was diagnosed with a disease so rare there has been little research. Her family is hoping to change that.
If your child has a known or suspected genetic condition, we can offer you the expert evaluation and information you need. 萝莉社 Pediatrics in Jacksonville offers a medical genetics consultative service that provides the highest quality evaluation, diagnostic testing, genetic counseling and collaborative medical management for your child, combined with compassionate care from our prominent team.
Expertise in genetic conditions
Our pediatric genetics program provides both inpatient and outpatient services at 萝莉社 Jacksonville and Wolfson Children鈥檚 Hospital. Within the outpatient 萝莉社 Pediatric Multispecialty Center, comprehensive care management is provided to children and families who may be referred for the following genetic conditions:
- Birth defects and congenital anomalies
- Learning or behavior concerns
- Problems with growth or development
- Family history of known genetic conditions, or concerns about a specific genetic condition
With access to the latest genetic information technology and cutting-edge diagnostics, we also have special expertise in:
- Neurocutaneous syndromes, including NF1, NF2, schwannomatosis, tuberous sclerosis complex, von Hippel-Lindau syndrome
- Noonan syndrome and related disorders
- Connective tissue disorders, including Ehlers-Danlos syndromes, Marfan syndrome, thoracic aortic aneurysm syndromes, osteogenesis imperfecta
Excellence in services offered
Our team of professionals provide the following services:
- Evaluation and diagnosis
- Coordination of genetic testing
- Genetic counseling and education to help you and your family understand and manage your child鈥檚 condition effectively
- Follow-up care and referral to additional resources
The Neurofibromatosis Program at 萝莉社 Jacksonville
The Neurofibromatosis Program at 萝莉社 Jacksonville provides comprehensive care for both children and adults with neurofibromatosis. We provide exceptional medical care while supporting patients and their families through the emotional and social aspects of their diagnosis. As a member of the , our team is committed to providing expert care focusing on diagnosis, education, management, and counseling.
Neurofibromatosis is a genetic disorder of the nervous system that causes tumors to grow on nerve tissue. The clinic specializes in managing three types of neurofibromatosis.
- Neurofibromatosis type 1 (NF1)
- Neurofibromatosis type 2 (NF2), or NF2-related schwannomatosis
- Schwannomatosis
Our clinical team includes a clinical geneticist, certified nurse practitioners, and genetic counselors. We offer care coordination with multiple specialists and assist pediatric patients transitioning to adult health care, ensuring they have a multidisciplinary care team throughout their lives.