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.
Belly bloating
Always present (100%)HP:0003270
Cardiomyopathy, hypertrophic
Always present (100%)HP:0001639
Cirrhosis
Always present (100%)HP:0001394
Corpus callosum agenesis, partial
Always present (100%)HP:0001338
Cutaneous 2,3 toe syndactyly
Always present (100%)HP:0005709
Enlarged liver
Always present (100%)HP:0002240
Fatty liver
Always present (100%)HP:0001397
Feeding difficulties
Always present (100%)HP:0011968
Flat nasal bridge
Always present (100%)HP:0005280
High blood pressure
Always present (100%)HP:0000822
Large spleen
Always present (100%)HP:0001744
Low albumin
Always present (100%)HP:0003073
Low-set ears
Always present (100%)HP:0000369
Penoscrotal hypospadias
Always present (100%)HP:0000808
Retromicrognathia
Always present (100%)HP:0000308
Sacral dimple
Always present (100%)HP:0000960
Ventricular fibrillation
Always present (100%)HP:0001663
Abnormal dermatoglyphics
Very frequent (80-99%)HP:0007477
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Elevated levels of cholesta-5,7-dien-3beta-ol
Very frequent (80-99%)HP:0010569
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Gastro-esophageal reflux
Very frequent (80-99%)HP:0002020
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Increased nuchal translucency
Very frequent (80-99%)HP:0010880
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Mental deficiency
Very frequent (80-99%)HP:0001249
Misshapened teeth
Very frequent (80-99%)HP:0006482
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Quick Facts
- SNOMED CT
- 43929004
- UMLS CUI
- C0175694
- Fully Specified Name
- Smith-Lemli-Opitz 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.