Rare diseases · Sign or symptom
Cutis laxa
Loose and inelastic skin
HP:0000973
What it means
Wrinkled, redundant, inelastic and sagging skin.
Rare diseases that can present with this27
Always100%
3Very common80–99%
8- Autosomal dominant cutis laxa
- Autosomal recessive cutis laxa type 2, classic type
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- De Barsy syndrome
- Neonatal Marfan syndrome
- Progeroid syndrome, Petty type
- Wrinkly skin syndrome
Common30–79%
6Sometimes5–29%
10- ALG8-CDG
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Congenital tracheomalacia
- Elastosis perforans serpiginosa
- Hereditary combined deficiency of vitamin K-dependent clotting factors
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- MAN1B1-CDG
- Ogden syndrome
and 2 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Chalazoderma · Cutaneous laxity · Dermatochalasia · Dermatomegaly · Elastolysis · Generalised elastolysis · Generalized elastolysis · Hanging skin
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.