Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad, upturned nose
Always present (100%)HP:0000455
Fallen arches
Always present (100%)HP:0001763
Flat nasal bridge
Always present (100%)HP:0005280
Increased height of lower lip vermilion
Always present (100%)HP:0000179
Low chest circumference
Always present (100%)HP:0000774
Pectus carinatum
Always present (100%)HP:0000768
Relatively large head
Always present (100%)HP:0004482
Schmorl's nodes
Always present (100%)HP:0030041
Short stature, proportionate
Always present (100%)HP:0003508
Squared off shoulders
Always present (100%)HP:6000464
Very poor growth
Always present (100%)HP:0001510
Widened metaphyses
Always present (100%)HP:0003016
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Decreased body height
Very frequent (80-99%)HP:0004322
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hypoplastic ischii
Very frequent (80-99%)HP:0003175
Hypoplastic pubis
Very frequent (80-99%)HP:0003173
Increased vertebral height
Very frequent (80-99%)HP:0004570
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Inverted triangular face
Very frequent (80-99%)HP:0000325
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Potato nose
Very frequent (80-99%)HP:0000414
Rocker bottom feet
Very frequent (80-99%)HP:0001838
Short neck
Very frequent (80-99%)HP:0000470
Slender long bone
Very frequent (80-99%)HP:0003100
Small midface
Very frequent (80-99%)HP:0011800
Small pelvis
Very frequent (80-99%)HP:0008839
Quick Facts
- SNOMED CT
- 702342007
- UMLS CUI
- C1848862
- Fully Specified Name
- Dolichospondylic dysplasia (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.