Genetic, Chromosomal & Metabolic Conditions

• Ellis-Van Creveld Dysplasia

  Ellis-van Creveld dysplasia is a type of skeletal dysplasia, causing very short stature (dwarfism), short arms and legs, and a narrow chest. Regular care from medical specialists can help with problems it can cause.

• Epigenetics

  Epigenetics – the idea that environmental factors can change the health not only of the people who are exposed to them, but also the health of their descendants – is something we’ll be hearing more about.

• Familial Hypercholesterolemia (FH)

  Familial hypercholesterolemia is a genetic condition that causes very high levels of LDL (“bad” cholesterol).

• Fanconi Anemia

  Fanconi anemia is an inherited condition in which the bone marrow doesn’t work normally. A child with the condition needs lifelong medical care.

• G6PD Deficiency

  G6PD deficiency an inherited condition in which someone doesn’t have enough of the enzyme G6PD, which protects red blood cells.

• Galactosemia

  Some babies are born with the metabolic disorder glactosemia. They must drink soy-based formula instead of breast milk or a cow’s milk-based formula.

• Gene Changes (Mutations)

  A gene mutation is a change in one or more genes. Some mutations can lead to genetic disorders or illnesses.

• Genetic Conditions: How Do They Run in Families?

  Sometimes genetic conditions can run in families. If you have a child or plan to, be prepared by learning about genes and how they’re passed down.

• Genetic Counseling

  Genetic counseling is a way for people to understand how genetic illnesses can affect them and their family.

• Genetic Testing

  Advances in genetic testing help doctors diagnose and treat certain illnesses. The type of test done depends on which condition a doctor checks for.