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Smith-Lemli-Opitz syndrome

disorder
SNOMED 43929004CUI C0175694

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abdominal swelling
Always present (100%)HP:0003270
Cardiomyopathy, hypertrophic
Always present (100%)HP:0001639
Cirrhosis
Always present (100%)HP:0001394
Concave bridge of nose
Always present (100%)HP:0005280
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
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
Partial or complete agenesis of corpus callosum
Always present (100%)HP:0001338
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
Central hypotonia
Very frequent (80-99%)HP:0001252
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
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
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

Related Conditions

Multiple malformation syndrome, moderate short stature, facial(parent)
Disorder of cholesterol synthesis(parent)

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.