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Genetic, Chromosomal & Metabolic Conditions

22q11.2 Deletion Syndrome (DiGeorge Syndrome)

22q11.2 deletion syndrome (also called DiGeorge Syndrome) is a genetic condition that can cause a variety of physical and behavioral problems.

Achondroplasia

Achondroplasia is a condition that causes short stature (an adult height less than 4 feet, 10 inches). Treatment can help with related problems, and new research offers hope for even better treatments.

Albinism

Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here.

Alpha Thalassemia

Alpha thalassemia is a blood disorder in which the body has a problem producing alpha globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.

Ataxia-Telangiectasia

Ataxia telangiectasia is a rare genetic condition. Children with the condition have uncoordinated movements that get worse over time.

Beta Thalassemia

Beta thalassemia is a blood disorder in which the body has a problem producing beta globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.

Birth Defects

Some birth defects are minor and cause no problems. Others can be serious and require lifelong treatment.

Campomelic Dysplasia

People with campomelic dysplasia usually have bent long bones and can have severe breathing problems. A team of specialists will care for a child when medical problems come up.

Cardiofaciocutaneous (CFC) Syndrome

Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition. It affects the heart, facial features, and skin.

Cartilage Hair Hypoplasia

Kids with cartilage hair hypoplasia have differences with the growth of their bones. With regular medical care, most kids can live a full, healthy life.