Genetics, Birth Defects & Metabolism Programs

The Division of Genetics, Birth Defects and Metabolism has developed specialized programs to treat certain conditions in the most comprehensive way possible. Browse our list of programs to learn more about the expert-led initiatives that can help treat your child.

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Bicuspid Aortic Valve Program

Lurie Children’s Heart Center monitors and cares for more than 100 infants, children and teenagers with bicuspid aortic valve disease, the most common form of congenital heart disease.

Cancer Predisposition Program

Lurie Children’s Cancer Predisposition Program provides comprehensive genetic counseling and testing services to pediatric oncology patients and families at risk of hereditary cancer syndromes.

Cleft Lip & Palate Program

Lurie Children's Division of Plastic and Reconstructive Surgery has extensive expertise in treating children with cleft lip and palate, as well as guiding the care of these children from birth through adulthood.

Connective Tissues Disorders Program

Lurie Children’s Connective Tissue Disorder Program provides comprehensive care and genetic counseling to more than 200 patients with disorders of the connective tissue, such as Marfan syndrome.

Leukodystrophy Care Program

Lurie Children's Leukodystrophy Care Program is a multidisciplinary program providing the best possible comprehensive care to patients with leukodystrophies and their families at every stage of their disease.

Mucopolysaccharidoses & Mucolipidoses Treatment Program​

Lurie Children's Mucopolysaccharidoses and Mucolipidoses Treatment Program provides comprehensive care and assists patients and families in the management of these complex conditions.

Neurofibromatosis Program

Lurie Children's Neurofibromatosis Program brings together a team of ophthalmologists, orthopaedic surgeons, neurosurgeons and oncologists, seeing more than 300 patients with neurofibromatosis a year.