Overview
Marshall-Smith syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
High forehead
Always present (100%)HP:0000348
Mental and motor retardation
Always present (100%)HP:0001263
Moderate mental retardation
Always present (100%)HP:0002342
Prominent premaxilla
Always present (100%)HP:0010759
Weight less than 3rd percentile
Always present (100%)HP:0004325
Bowed long bones
Very frequent (80-99%)HP:0006487
Bulging forehead
Very frequent (80-99%)HP:0011220
Early bone maturation
Very frequent (80-99%)HP:0005616
Flat midface
Very frequent (80-99%)HP:0011800
Hypertrichosis
Very frequent (80-99%)HP:0000998
Loose-jointedness
Very frequent (80-99%)HP:0001382
Mental deficiency
Very frequent (80-99%)HP:0001249
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Obstructive lung disease
Very frequent (80-99%)HP:0006536
Prominent globes
Very frequent (80-99%)HP:0000520
Retrognathia
Very frequent (80-99%)HP:0000278
Slender long bone
Very frequent (80-99%)HP:0003100
Speech delay
Very frequent (80-99%)HP:0000750
Thin skin
Very frequent (80-99%)HP:0000963
Undergrowth
Very frequent (80-99%)HP:0001508
Absence of the septum pellucidum
Frequent (30-79%)HP:0001331
Aspiration pneumonia
Frequent (30-79%)HP:0011951
Atlantoaxial subluxation
Frequent (30-79%)HP:0003414
Bilateral conductive hearing loss
Frequent (30-79%)HP:0008513
Brisk deep tendon reflexes
Frequent (30-79%)HP:0001348
Bruising susceptibility
Frequent (30-79%)HP:0000978
Bunion
Frequent (30-79%)HP:0001822
Cerebral pachygyria
Frequent (30-79%)HP:0001302
Cholesteatoma
Frequent (30-79%)HP:0009797
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Related Conditions
Multiple malformation syndrome with early overgrowth(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Skeletal dysplasia(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 73284007
- UMLS CUI
- C0265211
- Fully Specified Name
- Marshall-Smith 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.