Overview
Spondylometaphyseal dysplasia 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.
Dwarfism, short-limbed
Always present (100%)HP:0008873
Pectus carinatum
Always present (100%)HP:0000768
Brachydactyly
Frequent (30-79%)HP:0001156
Coxa vara
Frequent (30-79%)HP:0002812
Curvature of digit
Frequent (30-79%)HP:0030084
Small odontoid peg
Frequent (30-79%)HP:0003311
Abdominal protuberance
HP:0001538
Absent pubic ossification in infancy
HP:0008788
Anteriorly splayed ribs
HP:0000907
C1-C2 subluxation
HP:0003320
Cleft of palate
HP:0000175
Club-shaped proximal femur
HP:0006406
Dappled metaphyseal sclerosis
HP:0011860
Dropped arches
HP:0001763
Flattened vertebral bodies
HP:0000926
Genu valga
HP:0002857
Hypoplastic pubis
HP:0003173
Inguinal hernia
HP:0000023
Irregular metaphyses
HP:0003025
Low intelligence
Excluded (<1%)HP:0001249
Narrow sciatic notches
HP:0003375
Near sighted
HP:0000545
Prominent swayback
HP:0003307
Scoliosis
HP:0002650
Short stature, severe
HP:0003510
Spondyloepimetaphyseal dysplasia
HP:0002651
Related Conditions
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome(child)
Kozlowski spondylometaphyseal dysplasia(child)
Spondylometaphyseal dysplasia Schmidt type(child)
Hall Riggs syndrome(child)
X-linked spondylometaphyseal dysplasia(child)
Spondylometaphyseal dysplasia A4 type(child)
Autosomal recessive spondylometaphyseal dysplasia Megarbane type(child)
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome(child)
Spondylometaphyseal dysplasia - Sutcliffe type(child)
Axial spondylometaphyseal dysplasia(child)
Regressive spondylometaphyseal dysplasia(child)
Spondylometaphyseal dysplasia, corneal dystrophy syndrome(child)
SBDS ribosome maturation factor-related severe neonatal spondylometaphyseal dysplasia(child)
Skeletal dysplasia(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 784006008
- UMLS CUI
- C4759767
- Fully Specified Name
- Spondylometaphyseal dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.