A rare genetic developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa marfanoid habitus with arachnodactyly pulmonary emphysema cardiac anomalies and diaphragmatic hernia. Mild contractures of the elbows hips and knees with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Cutis laxa-Marfanoid syndrome?
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Advocacy Organizations
Myhre Syndrome Foundation
We aim to safely bring the best possible treatments to the Myhre syndrome community. We’re building tools to test a wide range of therapies—from existing drugs to DNA repair.
The Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
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