Autosomal recessive cutis laxa type 1
What is Autosomal recessive cutis laxa type 1?
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).
Other condition names
- ARCL1
- Autosomal recessive cutis laxa with severe systemic involvement
- Autosomal recessive cutis laxa, pulmonary emphysema type
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Infancy
- Neonatal
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