Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Increased carrying angle
Always present (100%)HP:0003102
Mesomelia of the upper limbs
Always present (100%)HP:0005011
Rhizomelic arm shortening
Always present (100%)HP:0004991
Short stature, mesomelic
Always present (100%)HP:0008845
Abnormal morphology of ulna
Very frequent (80-99%)HP:0040071
Anomalous carpal bones
Very frequent (80-99%)HP:0001191
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Bowed long bones
Very frequent (80-99%)HP:0006487
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
High arched palate
Very frequent (80-99%)HP:0000218
Hypoplastic femoral neck
Very frequent (80-99%)HP:0100864
Hypoplastic/aplastic fibulae
Very frequent (80-99%)HP:0006492
Madelung deformity
Very frequent (80-99%)HP:0003067
Mesomelic/rhizomelic limb shortening
Very frequent (80-99%)HP:0005026
Micromelia
Very frequent (80-99%)HP:0002983
Short stature, severe
Very frequent (80-99%)HP:0003510
Ulnar Drift
Very frequent (80-99%)HP:0009465
Broad ulna
HP:0003993
Hypoplastic mandible condyle
HP:0000347
Increased lumbar lordosis
HP:0002938
Mesomelia
HP:0003027
Nonprogressive mental retardation
Excluded (<1%)HP:0001249
Radial bowing
HP:0002986
Short fibula
Excluded (<1%)HP:0003038
Short skankbone
HP:0005736
Short ulna
HP:0003022
Shortening of radius
HP:0002984
Small to absent fibula
HP:0006381
Quick Facts
- SNOMED CT
- 38494008
- UMLS CUI
- C0432230
- Fully Specified Name
- Langer mesomelic dysplasia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.