Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Atria septal defect
Always present (100%)HP:0001631
Brachydactyly
Always present (100%)HP:0001156
Delayed language development
Always present (100%)HP:0000750
Keratoconus
Always present (100%)HP:0000563
Omphalocoele
Always present (100%)HP:0001539
Small cerebellum
Always present (100%)HP:0001321
Large head
Very frequent (80-99%)HP:0000256
Polydactyly affecting the hallux
Very frequent (80-99%)HP:0001841
Postaxial hand polydactyly
Very frequent (80-99%)HP:0001162
Broad big toe
Frequent (30-79%)HP:0010055
Broad bone of big toe
Frequent (30-79%)HP:0010059
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Frontal protuberance
Frequent (30-79%)HP:0002007
High forehead
Frequent (30-79%)HP:0000348
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Mental and motor retardation
Frequent (30-79%)HP:0001263
Partial syndactyly
Frequent (30-79%)HP:0006101
Syndactyly
Frequent (30-79%)HP:0001159
Syndactyly of feet
Frequent (30-79%)HP:0001770
Abnormal calvaria morphology
Occasional (5-29%)HP:0002683
Abnormal skeletal muscle fibre morphology
Occasional (5-29%)HP:0004303
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Broad thumbs
Occasional (5-29%)HP:0011304
Camptodactyly of feet
Occasional (5-29%)HP:0001836
Cardiac anomaly
Occasional (5-29%)HP:0001627
Contractures of the hands
Occasional (5-29%)HP:0009473
Craniosyostosis
Occasional (5-29%)HP:0001363
Related Conditions
Quick Facts
- SNOMED CT
- 32985001
- UMLS CUI
- C0265306
- Fully Specified Name
- Greig cephalopolysyndactyly syndrome (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.