Autosomal recessive cutis laxa type 1

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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 Data version December 2023

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Autosomal recessive cutis laxa type 1?

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