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Diseases

Genetic and Rare Diseases Information Center (GARD)

Adams-Oliver syndrome


Other Names for this Disease
  • Limb scalp and skull defects
  • AOS
  • Congenital scalp defects with distal limb anomalies
  • Congenital scalp defects with distal limb reduction anomalies
  • Limb, scalp and skull defects
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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 (AOS) or Adams Oliver syndrome, is a rare condition characterized by an abnormality of skin development (areas of missing skin on the scalp, called aplasia cutis congenita) and malformations of the hands and feet. These may include webbed fingers or toes (syndactyly); and short or missing fingers or toes (brachydactyly or oligodactyly). Other features may include additional skeletal abnormalities of the limbs; cutis marmorata telangiectatica congenita (a blood vessel disorder); pulmonary hypertension; heart defects; and neurological problems.[1] Severity can vary greatly among affected people and may be lethal in some cases.[2] AOS is caused by mutations in any of six known genes. It may be inherited in an autosomal dominant or autosomal recessive manner, depending on the genetic cause. In some cases, the genetic cause is unknown.[1] Treatment depends on the severity and specific features in each person, and often involves a team of specialists.[3]
Last updated: 1/15/2016

What is cutis marmorata telangiectatica congenita?

Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by cutis marmorata, telangiectasia, and phlebectasia (varicose vein). The skin findings most commonly occur on the legs, less commonly on the arms and trunk, and rarely do they involve the face and scalp. It is occasionally associated with skin ulceration or skin atrophy. The skin symptoms associated with classical CMTC generally improve with age. 

CMTC can occur alone or along with a variety of other birth defects, particularly those involving undergrowth or overgrowth of the same arm or leg. Most cases are thought to be sporadic (non-inherited), although rare cases have been observed in families.[4][5]
Last updated: 7/17/2015

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?

While Adams-Oliver syndrome is defined by the combination of aplasia cutis congenita of the scalp and terminal transverse limb defects (such as amputations, syndactyly, brachydactyly, or oligodactyly), many people with this condition also have vascular anomalies. These can include cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and underdevelopment of the blood vessels in the retina.

Although 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 (disorder of the blood vessels).

The vascular problems seen in Adams-liver syndrome are believed to result, at least in considerable part, from changes in the Notch signaling pathway. Notch signaling controls how certain types of cells develop in a growing embryo, including those cells that form the bones, heart, muscles, nerves, and blood. The specific cause of CMTC is less well understood at this time, although it is thought to be a multifactorial disorder (one due to a combination of genetic and environmental factors).[6][7][8]
Last updated: 7/17/2015

References
Other Names for this Disease
  • Limb scalp and skull defects
  • AOS
  • Congenital scalp defects with distal limb anomalies
  • Congenital scalp defects with distal limb reduction anomalies
  • 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.