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Leri-Weill dyschondrosteosis

disorder
SNOMED 17818006CUI C0265309

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.

Abnormal humerus morphology
Very frequent (80-99%)HP:0031095
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal morphology of the radius
Very frequent (80-99%)HP:0002818
Abnormal morphology of ulna
Very frequent (80-99%)HP:0040071
Abnormal tibia morphology
Very frequent (80-99%)HP:0002992
Abnormality of pelvic girdle bone morphology
Very frequent (80-99%)HP:0002644
Abnormality of the hips
Very frequent (80-99%)HP:0003272
Abnormality of the thighbone
Very frequent (80-99%)HP:0002823
Anomalous carpal bones
Very frequent (80-99%)HP:0001191
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Aplastic/hypoplastic toenails
Very frequent (80-99%)HP:0010624
Brachydactyly
Very frequent (80-99%)HP:0001156
Cone-shaped epiphyses
Very frequent (80-99%)HP:0010579
Curvature of little finger
Very frequent (80-99%)HP:0004209
Dorsal subluxation of ulna
Very frequent (80-99%)HP:0006459
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Formation of new noncancerous bone on top of existing bone
Very frequent (80-99%)HP:0100777
Genua vara
Very frequent (80-99%)HP:0002970
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Limited wrist movement
Very frequent (80-99%)HP:0006248
Madelung deformity
Very frequent (80-99%)HP:0003067
Mesomelia
Very frequent (80-99%)HP:0003027
Micromelia
Very frequent (80-99%)HP:0002983
Patellar aplasia
Very frequent (80-99%)HP:0006443
Radial bowing
Very frequent (80-99%)HP:0002986
Short skankbone
Very frequent (80-99%)HP:0005736
Short ulna
Very frequent (80-99%)HP:0003022
Shortening of radius
Very frequent (80-99%)HP:0002984
Small fingernail
Very frequent (80-99%)HP:0001804

Related Conditions

Mesomelic dysplasia(parent)
Autosomal dominant hereditary disorder(parent)
Small stature(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Bilateral Madelung deformity(parent)

Quick Facts

SNOMED CT
17818006
UMLS CUI
C0265309
Fully Specified Name
Leri-Weill dyschondrosteosis (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.