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.
Muscle stiffness
Always present (100%)HP:0003552
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Arthrogryposis multiplex
Very frequent (80-99%)HP:0002804
Bowed long bones
Very frequent (80-99%)HP:0006487
Decreased body height
Very frequent (80-99%)HP:0004322
Delayed relaxation of muscle fibres after contraction
Very frequent (80-99%)HP:0002486
Developmental dysplasia of the hip
Very frequent (80-99%)HP:0001385
Dropped arches
Very frequent (80-99%)HP:0001763
Elevated circulating aldolase concentration
Very frequent (80-99%)HP:0012544
Elevated serum creatine phosphokinase
Very frequent (80-99%)HP:0003236
Gait disturbance
Very frequent (80-99%)HP:0001288
Genu valga
Very frequent (80-99%)HP:0002857
Impaired vision
Very frequent (80-99%)HP:0000505
Limited mouth opening
Very frequent (80-99%)HP:0000211
Mental-retardation
Very frequent (80-99%)HP:0001249
Metatarsus valgus
Very frequent (80-99%)HP:0010508
Micromelia
Very frequent (80-99%)HP:0002983
Narrow mouth
Very frequent (80-99%)HP:0000160
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Protruding lower lip
Very frequent (80-99%)HP:0000232
Puffy cheeks
Very frequent (80-99%)HP:0000293
Pursed lips
Very frequent (80-99%)HP:0000205
Spasticity and rigidity of muscles
Very frequent (80-99%)HP:0001276
Stiff joint
Very frequent (80-99%)HP:0001387
Abnormality of the eyebrow
Frequent (30-79%)HP:0000534
Abnormality of the pharynx
Frequent (30-79%)HP:0000600
Abnormally ossified vertebrae
Frequent (30-79%)HP:0100569
Related Conditions
Recessive hereditary disorder (autosomal)(parent)
Myotonia congenita(parent)
Hereditary disorder of nervous system(parent)
Myoneural disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Multiple system malformation syndrome(parent)
Spondyloepiphyseal dysplasia congenita(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 29145002
- UMLS CUI
- C0036391
- Fully Specified Name
- Schwartz-Jampel 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.