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Adams Oliver syndrome


Other Names for this Disease

  • AOS
  • Aplasia cutis congenita with terminal transverse defects of limbs, and skull defects
  • Congenital scalp defects with distal limb anomalies
  • Forrest H Adams syndrome
  • Limb scalp and skull defects
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Most of the deaths of people with Adams Oliver syndrome (AOS) that I have seen are a result of pulmonary hypertension. Is there a relationship between those deaths and vascular problems or cutis marmorata telangiectastica congenita (CMTC)? Is there a difference between the vascular problems common in AOS patients and those who also have CMTC?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Adams Oliver syndrome?

Adams Oliver syndrome is characterized by birth defects involving the scalp, vascular system (blood vessels), and limbs. Symptoms of Adams Oliver syndrome vary greatly from patient to patient but may include missing areas of skin (often on the scalp), limb defects, heart defects, cutis marmorata telangiectatica congenita,  and occasionally pulmonary hypertension and central nervous system abnormalities. The cause of Adams Oliver syndrome is currently unknown. Both genetic and sporadic inheritance have been reported in the medical literature, however in most cases this syndrome is inherited in an autosomal dominant fashion.[1][2][3]
Last updated: 3/18/2009

What is cutis marmorata telangiectatica congenita?

Cutis marmorata telangiectatica congenita is a birth defect involving the skin and blood vessels. It is characterized by cutis marmorata, telangiectasia, and phlebectasia (varicose vein). It is occasionally associated with skin ulceration or skin atrophy. It can occur alone or along with other birth defects, particularly those involving abnormalities of the blood vessels. The cause is thought to be multifactorial with possible genetic or environmental factors involved.[4]
Last updated: 5/25/2011

Is pulmonary hypertension in people with Adams Oliver syndrome associated with vascular problems or cutis marmorata telangiectatica congenita? Is there a difference between the vascular problems common in Adams Oliver syndrome patients and those who also have cutis marmorata telangiectatica congenita?

Currently the cause of Adams Oliver syndrome (and associated features like pulmonary hypertension) has not been well established. Adams Oliver syndrome is a type of "vasculopathy" meaning disease of the blood vessels. The vascular problems are thought to be due to the abnormal migration of certain cells during the development of the baby in the womb. This error in cell migration causes the body's blood vessels to develop abnormally, ultimately resulting in the birth defects that characterize this syndrome. At this time, it is not known what causes the cells to abnormally migrate. No associated genetic defect has been identified at this time.[1][2][3]

In a recent case summary of two patients with Adams Oliver syndrome and pulmonary hypertension careful examination of involved tissues showed pulmonary vein narrowing and pulmonary vein stenosis in these patients. They found that certain blood vessel cells (pericytes) were abnormal, possibly due to the abnormal migration of these cells during fetal development.[1]

The cause of cutis marmorata telangiectatica congenita (CMTC) is not well understood, however it is also thought be a vascular defect. Approximately 21% of people with Adams Oliver syndrome reported in the medical literature also have CMTC. While cases of people with Adams Oliver syndrome and both pulmonary hypertension and CMTC have been reported, we are not aware of any further association. Like Adams Oliver syndrome, CMTC is thought to be a vasculopathy and the cause is not well understood.[4] Careful examination of CMTC involved tissues may look normal or show dilated capillaries and veins and scarring of blood vessels (vascular fibrosis). Hyperkeratosis, dilated lymphatics, and blood clots may also be seen.[4]
Last updated: 3/18/2009

References
  • Patel MS et al.,. Abnormal pericyte recruitment as a Cause for pulmonary hypertension in Adams-Oliver syndrome. American Journal of Medical Genetics. 2004;
  • Piazza AJ, Blackston D, Sola A. A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: Further evidence of vascular pathology?. American Journal of Medical Genetics. 2004;
  • Swartz EN, Sanatani S, Sandor GGS, Schrieber RA. Vascular abnormalities in Adams-Oliver syndrome: Cause or effect?. American Journal of Medical Genetics. 1999;
  • Grevelink SV, Mulliken JB. Vascular Anomalies and Tumors of Skin and Subcutaneous Tissues. In: Fitzpatrick et al.,. Dermatology in General Medicine. New York, NY: McGraw-Hill; 2003;
Other Names for this Disease
  • AOS
  • Aplasia cutis congenita with terminal transverse defects of limbs, and skull defects
  • Congenital scalp defects with distal limb anomalies
  • Forrest H Adams syndrome
  • Limb scalp and skull defects
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.