Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hypotrophic malar bone
Always present (100%)HP:0000272
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Craniosyostosis
Very frequent (80-99%)HP:0001363
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Dental agenesis
Very frequent (80-99%)HP:0009804
Failure of eruption of multiple teeth
Very frequent (80-99%)HP:0006283
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Retarded growth
Very frequent (80-99%)HP:0001510
Short stature, severe
Very frequent (80-99%)HP:0003510
Abnormal clavicles
Frequent (30-79%)HP:0000889
Broad thumbs
Frequent (30-79%)HP:0011304
Delayed skeletal development
Frequent (30-79%)HP:0002750
Enlarged mandible
Frequent (30-79%)HP:0000303
Eruption failure
Frequent (30-79%)HP:0000706
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Frontal protuberance
Frequent (30-79%)HP:0002007
Hypertrophy of supraorbital margins
Frequent (30-79%)HP:0000336
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Hypotrophic maxilla
Frequent (30-79%)HP:0000327
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Nostrils anteverted
Frequent (30-79%)HP:0000463
Osteopenia
Frequent (30-79%)HP:0000938
Prominent ear
Frequent (30-79%)HP:0000411
Rhizomelic limb shortening
Frequent (30-79%)HP:0008905
Short neck
Frequent (30-79%)HP:0000470
Thumb hypoplasia
Frequent (30-79%)HP:0009778
Abnormal bone ossification
Occasional (5-29%)HP:0011849
Brachydactyly
Occasional (5-29%)HP:0001156
Choanal atresia
Occasional (5-29%)HP:0000453
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Quick Facts
- SNOMED CT
- 254144002
- UMLS CUI
- C0432283
- Fully Specified Name
- Osteoglophonic 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.