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.
Global developmental delay, mild
Always present (100%)HP:0011342
Truncal obesity
Always present (100%)HP:0001956
Abnormal pineal melatonin secretion
Very frequent (80-99%)HP:0012689
Abnormal tracheobronchial morphology
Very frequent (80-99%)HP:0005607
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Anxiety disease
Very frequent (80-99%)HP:0000739
Autoagression
Very frequent (80-99%)HP:0100716
Brachydactyly
Very frequent (80-99%)HP:0001156
Childhood attention deficit/hyperactivity disorder
Very frequent (80-99%)HP:0007018
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Delayed primary teeth eruption
Very frequent (80-99%)HP:0000680
Dull intelligence
Very frequent (80-99%)HP:0001249
Enophthalmos
Very frequent (80-99%)HP:0000490
Frontal protuberance
Very frequent (80-99%)HP:0002007
Husky voice
Very frequent (80-99%)HP:0001609
Hyporeflexia
Very frequent (80-99%)HP:0001265
Hypotrophic malar bone
Very frequent (80-99%)HP:0000272
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Large elongated pulp chamber
Very frequent (80-99%)HP:0000679
Large facies
Very frequent (80-99%)HP:0100729
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mongoloid slant
Very frequent (80-99%)HP:0000582
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Obesity
Very frequent (80-99%)HP:0001513
Recurrent middle ear infection
Very frequent (80-99%)HP:0000403
Repetitive behaviour Stereotypic behaviour
Very frequent (80-99%)HP:0000733
Self-mutilation
Very frequent (80-99%)HP:0000742
Speech delay
Very frequent (80-99%)HP:0000750
Related Conditions
Quick Facts
- SNOMED CT
- 401315004
- UMLS CUI
- C0795864
- Fully Specified Name
- Smith-Magenis 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.