Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Birthmark
Always present (100%)HP:0000957
Abnormal heart rate
Very frequent (80-99%)HP:0011675
Abnormal pulmonary valve morphology
Very frequent (80-99%)HP:0001641
Abnormality of lung artery
Very frequent (80-99%)HP:0004414
Abnormality of the reproductive system
Very frequent (80-99%)HP:0000078
Bundle branch block
Very frequent (80-99%)HP:0011710
Cardiomyopathy, hypertrophic
Very frequent (80-99%)HP:0001639
Freckling
Very frequent (80-99%)HP:0001480
Growth failure
Very frequent (80-99%)HP:0001510
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Multiple lentigines
Very frequent (80-99%)HP:0001003
Nevocellular nevi
Very frequent (80-99%)HP:0000995
Pulmonary stenosis
Very frequent (80-99%)HP:0001642
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Severe sensorineural deafness
Very frequent (80-99%)HP:0008625
Skin hyperelasticity
Very frequent (80-99%)HP:0000974
Abnormal mitral valve morphology
Frequent (30-79%)HP:0001633
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the face
Frequent (30-79%)HP:0000271
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Decreased fertility
Frequent (30-79%)HP:0000144
Endocardial cushion defect
Frequent (30-79%)HP:0006695
Eye drop
Frequent (30-79%)HP:0000508
Increased size of skull
Frequent (30-79%)HP:0000256
Mitral valve prolapse
Frequent (30-79%)HP:0001634
Pectus carinatum
Frequent (30-79%)HP:0000768
Pectus excavatum
Frequent (30-79%)HP:0000767
Quick Facts
- SNOMED CT
- 111306001
- UMLS CUI
- C0175704
- Fully Specified Name
- Multiple lentigines syndrome (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.