Autosomal recessive cutis laxa type 1
Synonyms: ARCL1 | Autosomal recessive cutis laxa with severe systemic involvement | Autosomal recessive cutis laxa, pulmonary emphysema type
A generalized connective tissue disorder characterized by the association of wrinkled redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema vascular anomalies and gastrointestinal and genitourinary tract diverticuli).
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 December 2023
Newly diagnosed with
Autosomal recessive cutis laxa type 1?
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Advocacy Organizations
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.