Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
11 pairs of ribs
Always present (100%)HP:0000878
Absent outermost hand bone
Always present (100%)HP:0009881
Barrel chest
Always present (100%)HP:0001552
Calcification of the trachea
Always present (100%)HP:0002787
Cartilaginous ossification of larynx
Always present (100%)HP:0008747
Cartilaginous ossification of rib
Always present (100%)HP:0006646
Cystic hygroma of the neck
Always present (100%)HP:0000476
Frequent fractures
Always present (100%)HP:0002757
Hepatosplenomegaly
Always present (100%)HP:0001433
Hypertrophy of supraorbital margins
Always present (100%)HP:0000336
Hypoplastic calcaneus
Always present (100%)HP:0012789
Laryngeal calcification
Always present (100%)HP:0008754
Long collarbone
Always present (100%)HP:0000890
Lung segmentation defects
Always present (100%)HP:0002101
Multiple rib fractures
Always present (100%)HP:0006640
Nonimmune hydrops fetalis
Always present (100%)HP:0001790
Retrognathia
Always present (100%)HP:0000278
Short ribs
Always present (100%)HP:0000773
Shortened long bones of hand
Always present (100%)HP:0010049
shortened long tubular bones
Always present (100%)HP:0003026
Tetraphocomelia
Always present (100%)HP:0030721
Thoracic hypoplasia
Always present (100%)HP:0005257
Abdominal protuberance
Very frequent (80-99%)HP:0001538
Abnormal bone ossification
Very frequent (80-99%)HP:0011849
Abnormal maturation of the pelvis bone
Very frequent (80-99%)HP:0009106
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormality of leukocytes
Very frequent (80-99%)HP:0001881
Abnormally ossified vertebrae
Very frequent (80-99%)HP:0100569
Anterior rib punctate calcifications
Very frequent (80-99%)HP:0006619
Brachydactyly
Very frequent (80-99%)HP:0001156
Related Conditions
Quick Facts
- SNOMED CT
- 389261002
- UMLS CUI
- C2931048
- Fully Specified Name
- Greenberg 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.