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Phenylketonuria (PKU) is a metabolic disorder caused by a defect in the enzyme that breaks down an amino acid. PKU is treatable when it is found early.
Babies born with Pierre Robin Syndrome have a smaller-than-normal jaw. They need special treatment to keep the airway open, help with feeding and prevent serious problems.
People with primordial dwarfism have slowed growth that begins before birth and continues throughout life. Sometimes they have other health problems too.
Pseudoachondroplasia is a skeletal dysplasia that causes dwarfism and arms and legs that are short compared with the body. Children who have it can live long and productive lives.
Sanfilippo syndrome is a rare condition in which the body can't break down certain carbohydrates (sugars) in the blood, leading to serious problems in the brain and nervous system.
