Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of femoral head development
Very frequent (80-99%)HP:0010575
Aplasia/hypoplasia involving bones of the extremities
Very frequent (80-99%)HP:0045060
Arthralgias
Very frequent (80-99%)HP:0002829
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Increased lumbar lordosis
Very frequent (80-99%)HP:0002938
Poor growth
Very frequent (80-99%)HP:0001510
Short-trunked dwarfism
Very frequent (80-99%)HP:0003521
Abnormally ossified vertebrae
Frequent (30-79%)HP:0100569
Acetabular angle flat
Frequent (30-79%)HP:0003180
Flat facial shape
Frequent (30-79%)HP:0012368
Flattened vertebral bodies
Frequent (30-79%)HP:0000926
Genu valga
Frequent (30-79%)HP:0002857
Hip pain
Frequent (30-79%)HP:0030838
Hunched back
Frequent (30-79%)HP:0002808
Hypoplasia involving bones of the upper limbs
Frequent (30-79%)HP:0009824
Increased head circumference
Frequent (30-79%)HP:0040194
Osteoporosis
Frequent (30-79%)HP:0000939
Short neck
Frequent (30-79%)HP:0000470
Small odontoid peg
Frequent (30-79%)HP:0003311
Thickened facial skin with coarse facial features
Frequent (30-79%)HP:0000280
Atlantoaxial instability
Occasional (5-29%)HP:0003467
Back pain
Occasional (5-29%)HP:0003418
Barrel chest
Occasional (5-29%)HP:0001552
Cervical instability
Occasional (5-29%)HP:0008462
Cleft of palate
Occasional (5-29%)HP:0000175
Decreased bone mineral density Z score
Occasional (5-29%)HP:0004349
Fetal foot inversion
Occasional (5-29%)HP:0001762
Foot deformity
Occasional (5-29%)HP:0001760
Hypoacusis
Occasional (5-29%)HP:0000365
Hypoplastic femoral neck
Occasional (5-29%)HP:0100864
Related Conditions
Hypochondrogenesis(child)
Achondrogenesis, type II(child)
Mild spondyloepiphyseal dysplasia with premature onset arthrosis(child)
Spondyloepiphyseal dysplasia with joint laxity(child)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome(child)
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation(child)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome(child)
Spondyloepiphyseal dysplasia Reardon type(child)
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome(child)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome(child)
Spondyloepiphyseal dysplasia Kimberley type(child)
Spondyloepiphyseal dysplasia Maroteaux type(child)
Stickler syndrome non-ocular type(child)
Schwartz-Jampel syndrome(child)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome(child)
Spondyloepiphyseal dysplasia Stanescu type(child)
SHILCA syndrome(child)
microRNA 140-related spondyloepiphyseal dysplasia(child)
Skeletal dysplasia(parent)
Congenital anomaly of skeletal bone(parent)
Quick Facts
- SNOMED CT
- 278713008
- UMLS CUI
- C2745959
- Fully Specified Name
- Spondyloepiphyseal dysplasia congenita group (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.