Cutis laxa-Marfanoid syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Cutis laxa-Marfanoid syndrome?
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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.
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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