Information on the following diseases can be found in the Related Disorders section of this report:

• Omphalocele

Pentalogy of Cantrell is characterized by chest wall defects that may include a clefting of the chest area. The protrusion of the intestines through the child's navel into a sac (omphalocele) is also present. Muscles of the diaphragm are often missing allowing the heart to be apparent under the skin. An opening between the area of the body that contains the bowels, liver, and heart may exist. Often the above defects affect the infant's ability to breathe, for the heart to function, and may even cause widespread internal infection of the patient's abdominal cavity. Symptoms may occur due to an abnormality in the development of midline embryonic tissue fourteen to eighteen days after conception. The infant usually has normal intelligence.

Pentalogy of Cantrell can be a sporadic condition or be transmitted by an X- linked gene. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked disorders are conditions which result from a defective gene on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be corrected by the normal gene on the other X chromosome causing the female to be asymptomatic or making symptoms less serious than in males. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.

Pentalogy of Cantrell is a very rare disorder that affects 5.5 infants per one million live births. Males are affected more frequently than females. Females tend to have less severe symptoms than males. Approximately fifty cases have been identified in the medical literature.

Symptoms of the following disorders can be similar to those of Pentalogy of Cantrell. Comparisons may be useful for a differential diagnosis:

Omphalocele is the protrusion of the internal abdominal tissue through the navel into a clear sac outside of the body. If the size is less than 4 cm it is considered a hernia of the navel. If more than 4 cm it is an omphalocele.

Pentalogy of Cantrell usually requires a series of surgeries over a period of years. Abdominal and heart defects both require very involved surgical procedures. The abdominal defect is usually closed first. Heart defects are repaired when the child is older.

The disorder is usually apparent at birth or shortly after. Ultrasound testing can determine if the condition is present even before birth.

Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future.

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 313850; Last Update: 6/6/1990.

TEXTBOOKS
Thoene JG., ed. Physicians’ Guide to Rare Diseases. Montvale, NJ: Dowden Publishing Company Inc; 1995:121.

Buyce ML., ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:1375-76.

Sleisenger MH, et. al., Gastrointestinal Disease. 4th ed. Philadelphia, PA: W. B. Saunders Co; 1989:1015-17.

JOURNAL ARTICLES
Bognoni V, et al., First trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly. J Clin Ultrasound. 1999;27:276-78.

Daum R, et al., Total and superior sternal clefts in newborns: a simple technique for surgical correction. J Pediatr Surg. 1999;34:408-11.

de Campos JR, et al., Repair of congenital sternal cleft in infants and adolescents. Ann Thorac Surg. 1998;66:1151-54.

Fernandez MS, et al., Cantrell's pentalogy. Report of four cases and their management. Pediatr Surg Int. 1997;12:428-31.

Siles C, et al., Omphalocele and pericardial effusion: possible sonographic markers for the pentalogy of Cantrell or its variants. Obstet Gynecol. 1996;87:840-42.