AIDS Dysmorphic Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report AIDS Dysmorphic Syndrome is not the name you expected.

Disorder Subdivisions

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General Discussion

The term "AIDS dysmorphic syndrome" or "HIV embryopathy" has been used by some researchers to describe specific facial malformations (i.e., craniofacial dysmorphism), an unusually small head, and growth deficiency in some infants infected with HIV.* Such craniofacial abnormalities have included a prominent, boxlike forehead, large, wide eyes; a flattened nasal bridge, and an unusually pronounced philtrum, which is the vertical groove in the center of the upper lip.

However, many investigators have since questioned the significance of these observations. Such researchers indicate that there is lack of evidence for characteristic craniofacial malformations in infants who acquired HIV infection from their mother before, during, or shortly after birth (i.e., perinatally).

*HIV is the abbreviation for the human immunodeficiency virus, a retrovirus that infects certain white blood cells called helper T cells (CD4+ cells). HIV infection leads to progressive deterioration of the body's immune system and causes acquired immunodeficiency syndrome (AIDS).


Some researchers have reported particular craniofacial abnormalities, described as "AIDS dysmorphic syndrome" or "HIV embryopathy", in some infants who acquired HIV infection from their mother (perinatally). Such features have included a small head circumference (microcephaly); a prominent, boxlike forehead; a flattened nasal bridge and shortened nose; and/or an unusually pronounced vertical groove (philtrum) in the center of the upper lip. Various eye abnormalities have also been reported, such as unusually prominent and/or widely set eyes (ocular hypertelorism); slanting (obliquity) of the eyes; long eyelid folds (palpebral fissures); and/or an unusual bluish tint of the whites of the eyes (blue sclerae). Affected infants and children also typically had growth retardation, resulting in low weight and height as compared to others of the same age and sex. In some cases, growth failure began during fetal development (intrauterine growth retardation). Such features have varied in range and severity from case to case and have been noted prior to the development of symptoms associated with impaired functioning of the immune system (immunodeficiency).

However, as noted above, investigators have since cited a lack of evidence for characteristic craniofacial abnormalities in infants with perinatal HIV infection. Rather, according to such researchers, evidence suggests that there is no significant difference in the incidence of such features in affected children compared with those in the general population. In addition, although a significant number may have microcephaly and growth failure after birth, such abnormalities could be associated with chronic illnesses and progressive neurologic dysfunction (see below) due to HIV infection. Investigators also note that the observed features in infants with perinatal HIV infection must be differentiated from findings that may be due to exposure to alcohol, certain drugs, or other factors during pregnancy.

Symptoms of immunodeficiency due to perinatal HIV infection may become apparent during the first or second year of life or later during childhood. Common manifestations may include lung inflammation (lymphocytic interstitial pneumonitis); recurring bacterial infections; chronic fungal infection of the mouth (oral candidiasis); abnormal enlargement of the liver and spleen (hepatosplenomegaly); generalized swelling of lymph nodes (lymphadenopathy); swelling of certain salivary glands; rashes; persistent fever; chronic diarrhea; and severe weight loss (wasting). In addition, affected infants and children may develop chronic or recurrent infections with certain viruses, fungi, or other unusual opportunistic microorganisms. The term "opportunistic infections" refers to infections caused by microorganisms that usually do not cause disease in healthy individuals or to widespread (systemic) infection by microorganisms that typically cause only localized, mild infection. For example, affected infants and children may be prone to developing severe lung inflammation (pneumonia) due to infection with a microorganism known as Pneumocystis carinii, which may result in potentially life-threatening complications. Although uncommon, there may also be an increased risk of developing particular malignancies, such as certain cancers of the lymphatic system (e.g., non-Hodgkins B-cell lymphomas, brain lymphomas).

As noted above, many affected infants and children may also develop progressive neurologic dysfunction, which may include delays in or loss of previously acquired developmental milestones; intellectual deterioration; microcephaly; and motor dysfunction. Various additional findings may also be present, including inflammation of the liver (hepatitis) and impaired functioning of the kidneys (renal failure) and the heart (heart failure).


Most new cases of HIV infection in young children (pediatric HIV infection) are caused by transmission from the mother during pregnancy, labor and delivery, or breastfeeding (perinatal transmission). Estimates suggest that the transmission rate from untreated HIV-positive mothers in the United States is approximately 12 to 30 percent. (For further information, please see the "Standard Therapies" section of this report below.) Women with HIV infection are most often infected through heterosexual relations with an infected partner or injection drug use.

Affected Populations

Perinatal HIV infection is thought to affect males and females in relatively equal numbers. As noted above, in some cases, certain dysmorphic features have been observed prior to the onset of symptoms associated with immunodeficiency. However, the significance of such observations has been questioned (see "Symptoms"). Symptoms and findings resulting from immunodeficiency may become apparent during the first or second year of life or later during childhood.


Perinatal HIV infection is considered in infants of mothers known to be HIV-positive and/or in infants and children who have certain characteristic symptoms of HIV infection or immune system abnormalities. Infants who are born to mothers with HIV have antibodies against the virus in the bloodstream at birth (passively acquired maternal antibodies). In infants and children who are not infected with HIV, these passive antibodies eventually disappear, usually between six to 12 months, however, in some cases, they may be detectable for up to 18 months. Therefore, testing that detects the presence of HIV antibodies in the blood (serum antibody tests, e.g., enzyme immunoassay and confirmatory Western blot) in a child 18 months or older usually indicates infection; however, such testing is not conclusive in children younger than 18 months. In these children, HIV infection may be confirmed through the repeated use of various specialized viral detection laboratory tests (e.g., HIV viral cultures, a DNA-amplification and copying method known as polymerase chain reaction [PCR]). Additional laboratory tests may also be conducted to assess immune functioning in order to assist in diagnosis and to monitor disease progression and its treatment. Testing may include monitoring of helper T cell numbers (CD4+ cells), the ratio of helper T cells to certain other white blood cells (CD8+ cells), complete blood counts, and blood platelet levels.

Standard Therapies


Disease management and treatment may require the coordinated efforts of a team of medical professionals, including obstetricians, pediatricians, specialists in HIV infection, and additional health care professionals.

If pregnant women are infected with HIV, certain preventive measures may help to decrease the rate of transmission to their children. Such measures may include administration of the antiretroviral drug zidovudine (ZDV) by mouth (orally) during the second and third trimesters of pregnancy; intravenously during labor and delivery; and orally to the newborn during the first six weeks of life. Research has shown that, for selected HIV-infected pregnant women, this regimen may decrease the rate of perinatal HIV transmission by more than two-thirds. (ZDV is a nucleoside reverse transcriptase inhibitor.)

HIV-infected women may have already been taking or may be offered standard antiretroviral combination therapy as currently recommended for non-pregnant adults (two nucleoside reverse transcriptase inhibitors and a protease inhibitor). Such therapy may be offered both to improve the mother's health and to potentially further reduce the risk of HIV transmission. Decisions concerning the use and choice of such medications during pregnancy should consider the potential benefits and risks to the mother and her child. However, as noted above, evidence indicates that therapy with the antiretroviral agent ZDV should be included to help prevent perinatal HIV transmission.

Some research also shows that elective delivery by cesarean section may reduce the risk of HIV transmission to the newborn. However, the potential risks and benefits of cesarean section must be considered based on the specifics of each case. In addition, in the United States, HIV-infected mothers are advised not to breastfeed, since clean water and infant formulas are readily available.

As noted above, the treatment of HIV-infected infants and children may require the coordinated efforts of a multidisciplinary team of medical professionals, including specialists in pediatric HIV infection. Recommended disease management may include combination therapy with various antiretroviral agents, such as two nucleoside reverse transcriptase inhibitors (e.g., ZDV with didanosine or lamivudine), possibly in combination with a third medication belonging to the class of drugs known as protease inhibitors. The specific combination therapies recommended may depend upon the child's age, symptoms, amount of virus in the blood (viral load), ability or inability to tolerate certain medications, possible drug interactions, and/or other factors. Children should be regularly monitored for evidence of disease progression, to assess the effectiveness of therapy, and to make any necessary therapy adjustments.

Disease management may also include the administration of certain antibiotics to help prevent and/or aggressively treat particular infections (e.g., Pneumocystis carinii). In addition, certain corticosteroids may be prescribed. Intravenous immune globulin may also be recommended to help boost the ability of the immune system to fight certain infections. In addition, regular tuberculosis screening is advised.

Most routine childhood vaccinations may be provided to most children with HIV infection. However, generally, live bacterial or viral vaccinations are not used (although there may be some exceptions, such as measles-mumps-rubella vaccine). In addition, when affected children are exposed to infectious diseases that are vaccine preventable, immune globulin may sometimes be indicated.

Pediatricians may also provide parents of HIV-infected children with certain guidelines to help reduce the risk of potential infections. These may include avoiding raw or undercooked meat; understanding the importance of thorough handwashing; avoiding swimming in or drinking lake or river water; avoiding contact with farm animals; and understanding the potential risks of playing with pets.

Additional therapies are under evaluation for the treatment of HIV infection in children. Other treatment for affected infants and children is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, contact:



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Supporting Organizations


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For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see