Cherubism

What is cherubism?

Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.

Most people with cherubism have few, if any, signs and symptoms affecting other parts of the body. Rarely, however, this condition occurs as part of another genetic disorder. For example, cherubism can occur with Ramon syndrome, which also involves short stature, mental retardation, and overgrowth of the gums (gingival fibrosis). Additionally, cherubism has been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, short stature, and heart defects) and fragile X syndrome (a condition primarily affecting males that causes learning disabilities and mental retardation).

How common is cherubism?

The incidence of cherubism is unknown. At least 250 cases have been reported worldwide.

What genes are related to cherubism?

Mutations in the SH3BP2 gene cause cherubism.

Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown.

The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. The protein plays a role in transmitting chemical signals within cells, particularly cells involved in the replacement of old bone tissue with new bone (bone remodeling) and certain immune system cells.

Mutations in the SH3BP2 gene lead to the production of an overly active version of this protein. The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein disrupts critical signaling pathways in cells associated with the maintenance of bone tissue and in some immune system cells. The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts, which are cells that break down bone tissue during bone remodeling. An excess of these bone-eating cells contributes to the destruction of bone in the upper and lower jaws. A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of cherubism.

How do people inherit cherubism?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Cherub on Wikipedia

A '''cherub''' (Hebrew language כרוב; plural '''cherubim''', כרובים) is an angel mentioned several times in the Tanakh, or Old Testament, and in the ''Book of Revelation''. In medieval Catholic theology the Cherubim are one of the highest ranks in the hierarchy of angels, along with Seraphim. In popular Christian tradition, "cherub" and "cherubim" have become synonyms of "angel(s)" and especially with "baby angel(s)". Because some English speakers are unfamiliar with Hebrew plural formation, the words '''cherubims''' or '''cherubs''' are sometimes incorrectly used as plurals.

Cherubim in the Bible

Descriptions in the Bible vary, but in general all describe cherubim as winged creatures combining human and animal features. In the book of Genesis cherubim are described as guarding the way to the Tree of Life, east of the Garden of Eden armed with flaming swords (Genesis 3:24): "''So he drove out the man; and he placed at the east of the garden of Eden cherubim, and a flaming sword which turned every way, to keep the way of the tree of life." '' ''Exodus'' 26:1 attests that cherubim were embroidered on the curtains of the tabernacle. In Solomon's Temple, two olivewood sculptures of cherubim plated with gold, ten cubits high, stood wingtip-to-wingtip guarding the Ark of the Covenant, and two further sculpted cherubim are described as standing on the cover of the Ark facing each other (Ex 25:18). The Ark of the Covenant stood in the Holy of Holies, where the glory of God was said to reside; for this reason God is referred to in the Tanach as "God who dwells between the cherubim". These were probably winged figures of a type common in the symbolism of the region, e.g. those depicted in the Megiddo Ivories carrying the throne of a nameless Canaanite king (Wright, 1957). At an earlier period, when ... [ Read More ]

External Resources

Cherub Company London - Providing physical theatre, Shakespeare, drama training and acting. Information on the history, the actors, the director and the contacts for the company.

Little Love Cherub - Pattern for jointed doll with tiny wings.

Sarajane's Ceramics - Featuring ceramic items like cherubs, vases, fish, and egg plates. Custom glazing available.

Lil Cherub Treasures - Handmade baby gifts personalized with name and date of birth, including blankets, bibs, christening items, and shirts for siblings.

A Jazzin Jewelry Watch Shoppe - Mens and womens watches. Variety of styles including sports, divers, fancy ladies, bracelet, cherub pocket watch, stop watch, his n hers sets, analog, and quartz.

TS House of Miniatures - Porcelain fairy, cherub, kewpie, and angel dolls from Singapore.

Renate's Ceramics and Houseware - Canister sets, tea sets, pitcher, bowls, clocks, frames, cherubs and bathroom accessories in country, contemporary and Victorian styles.

Little Cherubs - Offers clothing from premature to seven years of age, including everyday to special occasion wear.

Buddy Lights - Table-top night lights in the shape of 13 heart warming animals and cherubs.

Angel Hugs - Offers cherubs, gardens, Thomas Kinkade cards, applets, special or all occasion cards. Includes poetry, inspiration, art, send later, and multi-send.