Patient Care

We accept referrals from all pediatricians and children's hospitals in the Dallas/Fort Worth metroplex, as well as from more distant areas within and beyond Texas. The Division’s clinical activities at Children’s Health℠ are focused in the following areas:

Metabolic Disease Clinic

The Metabolic Diseases Clinic provides evaluation and testing for children with known or suspected inborn errors of metabolism (IEMs). IEMs are a family of hundreds of rare diseases caused by mutations in the genes that allow the body to produce energy and grow. We are a regional center of excellence in these diseases, establishing the diagnosis in affected children, counseling and educating their families about these conditions, and optimizing therapy tailored to the needs of each child. Blood, urine, enzyme, and DNA analyses are performed for diagnosis. Patients with a confirmed diagnosis are then provided with nutritional evaluation, genetic counseling, and psychosocial assessment as well as long-term care.

The Metabolic Disease Clinic is closely associated with the Newborn Screening Clinic. We are a major referral center for the Texas Newborn Screening Program. This statewide program seeks to identify newborn babies with any of 30 different treatable diseases, many of which are genetic/metabolic in nature. A large percentage of the approximately 400,000 babies born in Texas each year are evaluated through our Division. When a baby in North Texas is found to have a metabolic abnormality on the newborn screen, the family is referred to our team for definitive diagnosis, treatment, and long-term care if necessary. Through the Texas Newborn Screening Program, more than 75 children with genetic metabolic diseases are identified each year, and the coordinated care of these children by the Metabolic Disease Clinic at Children’s Health significantly improves their development and survival.

Genetics/Dysmorphology Clinic

Children with conditions involving birth defects, developmental delay or mental retardation, or other known or suspected genetic disorders receive evaluation and testing in the Genetics/Dysmorphology Clinic. Chromosomal and DNA analysis for diagnosis of genetic disease is provided, as well as psychosocial assessment, counseling, and comprehensive case management with referral to medical specialists, community resources, and support groups. Family history analysis and risk counseling to discuss reproductive options also are available through a team of board-certified genetic counselors.

Down Syndrome Clinic

Faculty and staff with the Down Syndrome Clinic have more than 50 collective years of experience in caring for children with Down Syndrome and provide comprehensive treatment for children and their families, including medical management, genetic counseling, physical, speech and motor development evaluation and recommendations, psychosocial support, screening and referral for behavioral and psychiatric problems, and referral to community agencies for educational intervention or therapies.

Additional information about genetic diseases and our clinical services