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Genetic Disorders and Defects

Phenylketonuria (PKU)

PKU is a recessive disorder which occurs in about one in 10,000 to 15,000 live births and is caused by a deficiency of the enzyme phenylalanine hydroxylase.

Plagiocephaly

Learn more about the symptoms, causes and treatments for plagiocephaly, a disorder that causes a flattened head.

Prader Willi Syndrome

Prader-Willi syndrome can result when a baby inherits both copies of a section of chromosome. 

Saethre-Chotzen Syndrome

Learn more about the symptoms, causes and treatments for Saethre-Chotzen syndrome, a rare bone disorder.

Tracheoesophageal Fistula and Esophageal Atresia

Tracheoesophageal fistula is an abnormal connection in one or more places between the esophagus (the tube that leads from the throat to the stomach) and the trachea (the tube that leads from the throat to the windpipe and lungs).

Treacher Collins Syndrome

Learn more about the symptoms, causes and treatments for Treacher Collins syndrome, a bone disorder of the face and jaw.