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Saethre-Chotzen syndrome (SCS) is a rare, inherited, genetic disorder that affects the face and the skull. SCS causes the bones in the skull to fuse prematurely, a condition called craniosynostosis, which leads to facial asymmetry and a pointed appearance. Structural abnormalities of the eyes, ears, fingers, and toes may also exist. In some cases, SCS can cause developmental delay and mental retar...

Sandhoff disease is a rare, genetic disease. In this disease, there is a defect in a cellular enzyme that normally helps break down certain fatty products (called sphingolipids). Since the enzyme is defective, these fatty products don’t get broken down and start building up in the body instead. This is very damaging to cells in the body, especially in the brain. There are different types of Sandho...

Sanfilippo syndrome is a rare, inherited condition classified as a lysosomal storage disorder. It is caused by a missing or poorly functioning enzyme. In affected individuals, the missing or poorly functioning enzyme prevents the normal breakdown of waste material inside the body’s cells. This results in the buildup and storage of waste material in almost every cell of the body. As a result, cell...

Sarcoidosis is a disease in which small lumps of inflamed cells, or granulomas, form in body organs or tissues. In children, there are two different forms of sarcoidosis. The first is an early-onset childhood sarcoidosis that starts before age 4. The other form occurs in later childhood and more closely resembles the sarcoidosis seen in adults. In this group of children, the lung is the organ ...

Scheie Syndrome is a genetic disorder caused by a missing or poorly functioning enzyme named α-L-iduronidase. This enzyme is located in small sacs called lysosomes. Lysosomes are the part of a cell that has the important function of breaking down old proteins and carbohydrates. Because there is a lack of α-L-iduronidase in Scheie Syndrome, certain molecules named glycosaminoglycans be...

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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