Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad, upturned nose
Very frequent (80-99%)HP:0000455
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Frontal protuberance
Very frequent (80-99%)HP:0002007
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Neurodevelopmental delay
Very frequent (80-99%)HP:0012758
Profound global developmental delay
Very frequent (80-99%)HP:0012736
Abnormality of the reproductive system
Frequent (30-79%)HP:0000078
Broad ribs
Frequent (30-79%)HP:0000885
Cardiac anomaly
Frequent (30-79%)HP:0001627
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Distal phalangeal hypoplasia
Frequent (30-79%)HP:0009882
Ear anomalies
Frequent (30-79%)HP:0000356
Facial hemangiomata
Frequent (30-79%)HP:0000329
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Generalized hypertrichosis
Frequent (30-79%)HP:0004554
Helix abnormal
Frequent (30-79%)HP:0011039
Hydronephrosis
Frequent (30-79%)HP:0000126
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Increased distance between eyes
Frequent (30-79%)HP:0000316
Large mouth
Frequent (30-79%)HP:0000154
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Low-set ears
Frequent (30-79%)HP:0000369
Narrow forehead
Frequent (30-79%)HP:0000341
Poor vision
Frequent (30-79%)HP:0000505
Prominent globes
Frequent (30-79%)HP:0000520
Seizures
Frequent (30-79%)HP:0001250
Shallow eye sockets
Frequent (30-79%)HP:0000586
Short neck
Frequent (30-79%)HP:0000470
Wider-than-typical soft spot of skull
Frequent (30-79%)HP:0000260
Related Conditions
Ectodermal dysplasia with hair-tooth-nail defects(parent)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)
Hereditary disorder of the integument(parent)
Hereditary neoplastic syndrome(parent)
Genetic disorder of nail(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of tooth(parent)
Quick Facts
- SNOMED CT
- 18899000
- UMLS CUI
- C0265227
- Fully Specified Name
- Schinzel-Giedion 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.