Proteus syndrome, named after the polymorphous Greek God Proteus, is characterized by overgrowth either involving the whole body, or only certain parts of the body. The most well known cases, and probably one of the most severe, is of John Merrick the "Elephant Man." Usually normal at birth, children with proteus syndrome begin to develop signs in the first year of life. Often limbs or digits must be amputated. Spine and nerve damage is also common. Most cases are sporadic, and don't run in the family. The cause of Proteus syndrome is unknown.
Smith-Lemli-Opits syndrome (SLOS) is one of the more common autosomal recessive genetic diseases in the in the United States. It occurs in about 1 in 20,000 births with a carrier frequency of about 1 in 70. SLOS is more common in caucasians. Children with SLOS can have multiple birth defects including heart defects, extra fingers or toes, small size, stomach defects, and ambiguous genitalia. SLOS is due to the inability of the body to produce its own cholesterol. Since cholesterol is vital component of all cells it is necessary for normal growth and development. These children often have mental retardation and are small. Potential treatment focuses on giving massive cholesterol supplementation.