Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Fragmented elastic fibers in the dermis
Very frequent (80-99%)HP:0025167
Hanging skin
Very frequent (80-99%)HP:0000973
Increased number of skin folds
Very frequent (80-99%)HP:0007522
Loose redundant skin
Very frequent (80-99%)HP:0001582
Premature skin wrinkling
Very frequent (80-99%)HP:0100678
Skin hyperelasticity
Very frequent (80-99%)HP:0000974
Aortic aneurysm
Frequent (30-79%)HP:0004942
Aortic valve regurgitation
Frequent (30-79%)HP:0001659
Curved spine
Frequent (30-79%)HP:0010674
Distortion of face
Frequent (30-79%)HP:0001999
Hernia
Frequent (30-79%)HP:0100790
Inguinal hernia
Frequent (30-79%)HP:0000023
Ligamentous laxity
Frequent (30-79%)HP:0001382
Mitral regurgitation, mild
Frequent (30-79%)HP:0001653
Prematurely aged appearance
Frequent (30-79%)HP:0007495
Aortic coarctation
Occasional (5-29%)HP:0001680
Bladder diverticulum
Occasional (5-29%)HP:0000015
Brisk deep tendon reflexes
Occasional (5-29%)HP:0001348
Bronchiectasis
Occasional (5-29%)HP:0002110
Bronchiolitis
Occasional (5-29%)HP:0011950
Cardiac insufficiency
Occasional (5-29%)HP:0001635
Cataract, congenital
Occasional (5-29%)HP:0000519
Central hypotonia
Occasional (5-29%)HP:0001252
Corneal opacity
Occasional (5-29%)HP:0007957
Decreased size of cranium
Occasional (5-29%)HP:0000252
Deficient in vitamin D
Occasional (5-29%)HP:0100512
Delayed closure of the fontanelles
Occasional (5-29%)HP:0000270
Dermal translucency
Occasional (5-29%)HP:0010648
Dilatation of the ventricular cavity
Occasional (5-29%)HP:0006698
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Quick Facts
- SNOMED CT
- 111388003
- UMLS CUI
- C0268350
- Fully Specified Name
- Cutis laxa, autosomal dominant (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.