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EFEMP2-Related Cutis Laxa.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 May 12 [updated 2015 Jul 23].

Author information

Center for Medical Genetics, Antwerp University Hospital, Antwerp, Belgium
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania



EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.


The diagnosis of EFEMP2-related cutis laxa is established by clinical diagnostic criteria. Pathogenic variants in EFEMP2 (also known as FBLN4) are causative.


Treatment of manifestations: Routine repair of hernias; symptomatic treatment of pulmonary emphysema. Treatment of aortic root dilatation with beta-blockers and angiotensin-receptor inhibitors can be considered. Aortic aneurysm replacement has been performed successfully. Joint hypermobility can be supported by muscle-reinforcing physical therapy. Surveillance: Regular cardiovascular and pulmonary follow up starting at birth or at the time of diagnosis. Annual MR angiography from head to pelvis. Agents/circumstances to avoid: Cigarette smoking to avoid worsening of emphysema, sun tanning to protect skin.


EFEMP2-related cutis laxa is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3. Carrier testing and prenatal diagnosis of EFEMP2-related cutis laxa are possible once the pathogenic variants have been identified in the family.

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