Rare diseases · Sign or symptom
Redundant skin
Loose redundant skin
HP:0001582
What it means
Loose and sagging skin often associated with loss of skin elasticity.
Rare diseases that can present with this37
Very common80–99%
22- Ablepharon macrostomia syndrome
- Autosomal dominant cutis laxa
- Autosomal recessive cutis laxa type 1
- Autosomal recessive cutis laxa type 2, classic type
- Barber-Say syndrome
- Blepharonasofacial malformation syndrome
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- Classical-like Ehlers-Danlos syndrome type 2
- Costello syndrome
- Cutis laxa-Marfanoid syndrome
- Dysmorphism-cleft palate-loose skin syndrome
- Focal facial dermal dysplasia type III
- Geroderma osteodysplastica
- Lenz-Majewski hyperostotic dysplasia
- Progeroid syndrome, Petty type
- Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
- Recombinant 8 syndrome
- RIN2 syndrome
- Thanatophoric dysplasia
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Weaver syndrome
Common30–79%
8The 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: Redundant skin folds · Sagging, redundant 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.