Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Loose skin
Always present (100%)HP:0000973
Dermatochalasis
Very frequent (80-99%)HP:0010750
Fragmented elastic fibers in the dermis
Very frequent (80-99%)HP:0025167
Lack of skin elasticity
Very frequent (80-99%)HP:0100679
Loose redundant skin
Very frequent (80-99%)HP:0001582
Pulmonary emphysema
Very frequent (80-99%)HP:0002097
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the cheek
Frequent (30-79%)HP:0004426
Abnormality of the face
Frequent (30-79%)HP:0000271
Abnormality of the systemic arterial tree
Frequent (30-79%)HP:0011004
Abnormality of the thoracic cavity
Frequent (30-79%)HP:0045027
Collapsed lung
Frequent (30-79%)HP:0002107
Delayed motor milestones
Frequent (30-79%)HP:0001270
Funny looking face
Frequent (30-79%)HP:0001999
Heart failure
Frequent (30-79%)HP:0001635
Hernia
Frequent (30-79%)HP:0100790
Inguinal hernia
Frequent (30-79%)HP:0000023
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Joint instability
Frequent (30-79%)HP:0001382
Joint subluxation
Frequent (30-79%)HP:0032153
Occlusion of small pulmonary arteries
Frequent (30-79%)HP:0004969
Pathologic fracture
Frequent (30-79%)HP:0002756
Respiratory insufficiency
Frequent (30-79%)HP:0002093
Abnormal cardiac ventricular function
Occasional (5-29%)HP:0030872
Abnormality of the skull bones
Occasional (5-29%)HP:0000929
Aneurysmal disease
Occasional (5-29%)HP:0002617
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Infantile hypertrophic pyloric stenosis
Occasional (5-29%)HP:0002021
Multiple bladder diverticula
Occasional (5-29%)HP:0012619
Pneumonia, recurrent
Occasional (5-29%)HP:0006532
Related Conditions
Quick Facts
- SNOMED CT
- 254222002
- UMLS CUI
- C0268351
- Fully Specified Name
- Cutis laxa, recessive, type I (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.