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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
craniosynostosis +     
3MC syndrome 1  
acrocephalosyndactylia +   
Antley-Bixler syndrome +   
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Aurocephalosyndactyly 
Baller-Gerold syndrome  
Baraitser Rodeck Garner syndrome 
Beare-Stevenson cutis gyrata syndrome  
Bohring Syndrome  
brachycephaly, trichomegaly, and developmental delay  
C syndrome  
Calabro Syndrome 
Cole-Carpenter syndrome +   
cranioectodermal dysplasia +   
Craniosynostosis 2  
Craniosynostosis 3  
Craniosynostosis 4  
Craniosynostosis 5  
Craniosynostosis 6  
craniosynostosis 7  
Craniosynostosis and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Anomalies of the Cranial Base and Digits 
Craniosynostosis with Ectopia Lentis  
Craniosynostosis with Fibular Aplasia 
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis, Adelaide Type 
Craniosynostosis, Anal Anomalies, and Porokeratosis  
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis, Philadelphia Type 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Craniotelencephalic Dysplasia 
Crouzon syndrome +   
A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. (DO)
Fine-Lubinsky Syndrome  
frontonasal dysplasia 2  
Genoa Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
Hordnes Engebretsen Knudtson syndrome 
Hunter-McAlpine Syndrome 
Iida Kannari Syndrome 
Jackson-Weiss syndrome  
Kleeblattschaedel Syndrome 
Loeys-Dietz syndrome +   
Lowry Maclean syndrome 
Mehta Lewis Patton Syndrome 
Muenke syndrome  
Nonsyndromic Trigonocephaly +   
Pfeiffer Tietze Welte Syndrome 
Piepkorn Karp Hickok syndrome 
Plagiocephaly and X-Linked Mental Retardation 
Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development  
Shprintzen-Goldberg Craniosynostosis  
Skeletal Dysplasia, San Diego Type 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 

Synonyms
Exact Synonyms: CFD1 ;   Craniofacial Dysarthrosis ;   Craniofacial Dysostosis ;   Craniofacial Dysostosis Syndrome ;   Craniofacial Dysostosis Syndromes ;   Craniofacial Dysostosis Type 1 ;   Craniofacial Dysostosis, Type I ;   Crouzon Craniofacial Dysostosis ;   Crouzon Disease ;   Crouzon's disease ;   Crouzons disease ;   craniofacial dysarthroses ;   craniofacial dysostoses
Primary IDs: MESH:D003394
Alternate IDs: MIM:123500
Xrefs: GARD:6206 ;   ICD10CM:Q75.1 ;   NCI:C84653
Definition Sources: http://en.wikipedia.org/wiki/Crouzon_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/crouzon-syndrome "DO" "DO", http://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm "DO" "DO", https://www.faces-cranio.org/crouzon "DO" "DO"

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