Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aortic stenosis
Frequent (30-79%)HP:0001650
Decreased width of the skull
Frequent (30-79%)HP:0004422
Frontal protuberance
Frequent (30-79%)HP:0002007
Prominent back of the head
Frequent (30-79%)HP:0000269
Protruding forehead
Frequent (30-79%)HP:0011220
Right unicoronal synostosis
Frequent (30-79%)HP:0011317
Sagittal suture synostosis
Frequent (30-79%)HP:0004442
Systolic heart murmur
Frequent (30-79%)HP:0031664
Deformity of the skull
HP:0001363
Dolichocephaly
HP:0000268
Mental deficiency
Excluded (<1%)HP:0001249
Oxycephaly
HP:0000263
Scaphocephaly
HP:0030799
Tall shaped head
HP:0000262
Related Conditions
Parieto-occipital craniosynostosis(child)
Interparietal craniosynostosis(child)
Crouzon syndrome(child)
Baller-Gerold syndrome(child)
Fibroblast growth factor receptor 3-related craniosynostosis(child)
Cutis gyrata syndrome of Beare and Stevenson(child)
Complex craniosynostosis(child)
Simple craniosynostosis(child)
Acrocephalosyndactyly(child)
Holoprosencephaly craniosynostosis syndrome(child)
Pseudoaminopterin syndrome(child)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome(child)
Shprintzen Goldberg craniosynostosis syndrome(child)
Craniofacial dyssynostosis syndrome(child)
CDAGS (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome(child)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome(child)
Craniosynostosis and intracranial calcification syndrome(child)
Craniosynostosis Boston type(child)
Hunter McAlpine craniosynostosis syndrome(child)
Lowry MacLean syndrome(child)
Quick Facts
- SNOMED CT
- 57219006
- UMLS CUI
- C0010278
- Fully Specified Name
- Craniosynostosis syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.