Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal cutaneous elastic fiber morphology
Always present (100%)HP:0025082
Hanging skin
Always present (100%)HP:0000973
Loose redundant skin
Always present (100%)HP:0001582
Pulmonary emphysema
Always present (100%)HP:0002097
respiratory infections, recurrent
Always present (100%)HP:0002205
Aortic valve regurgitation
Frequent (30-79%)HP:0001659
Central hypotonia
Frequent (30-79%)HP:0001252
Inguinal hernia
Frequent (30-79%)HP:0000023
Occlusion of small pulmonary arteries
Frequent (30-79%)HP:0004969
Premature sagging cheeks
Frequent (30-79%)HP:0034273
Bladder diverticulum
Occasional (5-29%)HP:0000015
Supravalvular aortic stenosis
Occasional (5-29%)HP:0004381
Arachnodactyly
HP:0001166
Decreased amniotic fluid index
HP:0001562
Decreased size of cranium
HP:0000252
Diaphragmatic hernia
Excluded (<1%)HP:0000776
Dilatation of ascending aorta
HP:0004970
Generalised overgrowth
HP:0001548
Loose-jointedness
HP:0001382
Pectus excavatum
HP:0000767
Poor wound healing
Excluded (<1%)HP:0001058
Skin hyperelasticity
Excluded (<1%)HP:0000974
Twisted blood vessels
HP:0004948
Umbilical hernia
HP:0001537
Related Conditions
Cutis laxa, recessive, type I(child)
Cutis laxa, recessive, type II(child)
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome(child)
Urban Rifkin Davis syndrome(child)
Cutis laxa-corneal clouding-oligophrenia syndrome(child)
Recessive hereditary disorder (autosomal)(parent)
Inherited cutis laxa(parent)
Quick Facts
- SNOMED CT
- 59451000
- UMLS CUI
- C3665335
- Fully Specified Name
- Cutis laxa, autosomal recessive (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.