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Peutz-Jeghers Syndrome is a rare disorder of childhood, marked by dark skin deposits and growths in the intestinal tracts. The dark skin deposits, called melanin deposits, are found on the lips and inside the mouths of affected children. The growths inside their intestinal tracts are called hamartomatous polyps. These polyps can sometimes lead to bleeding and sometimes to cancer in the colon, st...

PFAPA syndrome is a condition comprised of specific symptoms – Periodic Fever, Aphthous-stomatitis, Pharyngitis, and cervical Adenopathy. This syndrome causes recurring, cyclical fevers in children, usually associated with sore throat and swollen lymph nodes. ...

Pfeiffer syndrome is a genetic disorder characterized by early closure of the sutures in the skull. Sutures are the lines or space between the bones of the skull that let the head grow as the brain grows. If they close too early, the head cannot grow normally to accommodate the growing and developing brain. Also because of the abnormal sutures, the shape of the head and face are affected by the pr...

Individuals with phenylketonuria (PKU) lack an enzyme that helps break down the amino acid phenylalanine. Amino acids are substances that form proteins in our cells. Since these individuals lack this enzyme, phenylalanine builds up in their blood. High levels of phenylalanine in the blood can affect brain development and cause severe mental retardation, along with other effects in the body. Fortun...

Phenylketonuria (PKU) is a genetic disorder of amino acid metabolism that is characterized by the absence of the activity of an enzyme called phenylalanine hydroxylase. This enzyme normally eliminates excess phenylalanine (an essential amino acid needed by the body) from the body. When phenylalanine hydroxylase is inactive, phenylalanine accumulates in the blood. The unchanged phenylalanine is exc...

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Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All