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Shprintzen Goldberg craniosynostosis syndrome
disorderSNOMED 719069008CUI C1321551
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Anterior bulging of the globe of eye
Very frequent (80-99%)HP:0000520
Arachnodactyly
Very frequent (80-99%)HP:0001166
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Dropped arches
Very frequent (80-99%)HP:0001763
High arched palate
Very frequent (80-99%)HP:0000218
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Low intelligence
Very frequent (80-99%)HP:0001249
Low-set ears
Very frequent (80-99%)HP:0000369
Narrow head shape
Very frequent (80-99%)HP:0000268
Narrow, high-arched roof of mouth
Very frequent (80-99%)HP:0002705
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Retrognathia
Very frequent (80-99%)HP:0000278
Abnormal aortic valve morphology
Frequent (30-79%)HP:0001646
Bulging forehead
Frequent (30-79%)HP:0011220
Camptodactyly
Frequent (30-79%)HP:0012385
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Communicating hydrocephalus
Frequent (30-79%)HP:0001334
Craniosyostosis
Frequent (30-79%)HP:0001363
Decreased projection of maxilla
Frequent (30-79%)HP:0000327
Eyelid ptosis
Frequent (30-79%)HP:0000508
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Frontal protuberance
Frequent (30-79%)HP:0002007
High forehead
Frequent (30-79%)HP:0000348
Inguinal hernia
Frequent (30-79%)HP:0000023
Loose-jointedness
Frequent (30-79%)HP:0001382
Mitral regurgitation
Frequent (30-79%)HP:0001653
Mitral valve prolapse
Frequent (30-79%)HP:0001634
Related Conditions
Autosomal dominant hereditary disorder(parent)
Craniosynostosis syndrome(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Connective tissue hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Musculoskeletal and connective tissue disorder(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 719069008
- UMLS CUI
- C1321551
- Fully Specified Name
- Shprintzen Goldberg craniosynostosis 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.