Genetic Conditions We Identify

We take specialized and evidence-based approaches to diagnosing children’s genetic and congenital disorders. When appropriate, we provide family-centered treatment for genetic conditions, and collaborate with other divisions at Lurie Children’s to provide comprehensive care for your child.

Birth Defect Syndromes

These are conditions in which a child is born with one or more birth defects, and often specific facial characteristics, which indicate the presence of a specific syndrome. Many of these syndromes have a genetic basis, but some may occur due to environmental or behavioral exposures. Examples of these syndromes include Brachman-de Lange syndrome and fetal alcohol syndrome.

Chromosome Abnormalities

These are conditions which result from the presence of extra chromosomal material or from a piece of chromosome missing. Most of these abnormalities develop prior to conception in the individual egg or sperm, but it is also possible for an abnormality to occur at conception. Some of the more common disorders are Down syndrome (Trisomy 21), Trisomy 18, Trisomy 13, Turner syndrome and Klinefelter syndrome. Most of these conditions, but not all, result in specific types of birth defects and developmental disabilities. Chromosome testing may be performed on the parents after a child is born with a chromosome abnormality to determine whether or not the abnormality was inherited from one of the parents or if it developed naturally.

Single Gene Disorders

There are thousands of conditions that result in a defect in one of the 20,000 human genes. Some of these conditions cause a malfunction of a single organ, while others cause defects to multiple organ systems. Examples of a single gene disorder are cystic fibrosis, Tay-Sachs disease and sickle cell anemia.

Metabolic Disorders

These are conditions in which the body is unable to normally perform some aspect of metabolism (the process of converting the food we eat into necessary components of the body, generating energy, and making and breaking down important chemicals in the body. These biochemical reactions require particular proteins called enzymes. Metabolic disorders are caused by lack of a functioning enzyme involved in a specific and necessary biochemical reaction within the body. Metabolic disorders are broken down into several different categories. Here are a few of the more common disorders:

  • Disorders of amino acid metabolism, like Phenylketonuria (PKU) Tyrosinemia
  • Conditions that impair the elimination of toxic compounds, like Urea Cycle Defects
  • Conditions affecting carbohydrates (sugars and starches, like Galactosemia, and Glycogen Storage Diseases
  • Lysosomal storage disorders, like the Mucopolysaccharidoses, Tay-Sachs disease, and Gaucher disease

Conditions We Treat

We also treat genetic conditions such as:

  • 22q11 deletion syndrome
  • Other lysosomal storage disorders, including Fabry disease, Pompe disease, lysosomal acid lipase deficiency, mucolipidosis II and III, Krabbe disease, Niemann-Pick Disease, and Metachromatic Leukodystrophy
  • Marfan syndrome
  • Neurofibromatosis
  • Skeletal dysplasias