- Limb scalp and skull defects
- Congenital scalp defects with distal limb anomalies
- Congenital scalp defects with distal limb reduction anomalies
- Limb, scalp and skull defects
Your QuestionMost 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?
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Questions on this page
- What is Adams-Oliver syndrome?
- What is cutis marmorata telangiectatica congenita?
- 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?
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.
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?
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).
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- Seo JK & cols. A Case of Adams-Oliver Syndrome. Ann Dermatol. February, 2010; 22(1):96-98. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883411/.
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- 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;
- Schwartz RA, Zalewska A, Erdal E, and Onder M.. Cutis Marmorata Telangiectatica Congenita. Medscape Reference. Last updated: 06/29/2015; http://emedicine.medscape.com/article/1086221-overview. Accessed 7/17/2015.
- Patel MS et al.,. Abnormal pericyte recruitment as a Cause for pulmonary hypertension in Adams-Oliver syndrome. American Journal of Medical Genetics. 2004;
- Adams-Oliver syndrome. Genetics Home Reference. 01/2014; http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome. Accessed 7/15/2015.
- Stittrich AB, Lehman A, Bodian DL et al. Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet. 2014 Sep; 95(3):275-84. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157158/. Accessed 7/17/2015.