ORPHA:90349
Autosomal recessive cutis laxa type 1
Also called ARCL1, Autosomal recessive cutis laxa with severe systemic involvement, Autosomal recessive cutis laxa, pulmonary emphysema type
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:90349 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Redundant skin
- Emphysema
- Dermatochalasis
- Fragmented elastic fibers in the dermis
- Lack of skin elasticity
- Joint hypermobility