{"Name":"Craniosynostosis syndrome","DiseaseID__c":"GARD:0006209","id":6209,"encodedName":"craniosynostosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Craniosynostosis syndrome","Xref_IDs__c":"57219006; C0010278; C84655; D003398; DOID:2340; MEDGEN:1163; MONDO:0015469; OMIMPS:123100; ORPHA:1531; Q75.0","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015469","Disease_Description__c":"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.","GARD_Name__c":"Craniosynostosis syndrome","GARD_Synonym__c":"congenital ossification of cranial sutures; congenital ossification of sutures of skull; cranial suture synostosis; craniostenosis; craniostosis; craniosynostosis; craniosyostosis; cso - craniosynostosis; deformity of the skull; early fusion of cranial sutures; premature closure of cranial sutures; premature cranial suture closure; premature suture closure","Curated_Disease_Description_Source__c":"GARD:0006209","Curated_Disease_Description__c":"Craniosynostosis is the premature closure of one or more of the joints that connect the bones of a baby's skull (cranial sutures). Normally, the bones remain separate until about age 2, while the brain is growing. They then fuse together and stay connected throughout life. The closure is premature when it occurs before brain growth is complete. Symptoms and severity vary depending on how many sutures close prematurely. For example, if only one closes prematurely (which is most common), brain growth may continue in other parts of the skull, leading only to an abnormally-shaped skull and no other health problems or complications. If multiple sutures close prematurely, brain growth can be restricted. This can lead to increased pressure in the skull, impaired brain development, seizures, blindness, and/or intellectual disability. Craniosynostosis may occur as a single abnormality (isolated Craniosynostosis) or it may occur as one feature of one of many syndromes. Most cases of isolated Craniosynostosis occur randomly (sporadically) and have no known cause. In some cases, isolated Craniosynostosis is due to a genetic change in any of several genes, with autosomal dominant inheritance. When Craniosynostosis is a feature of a larger syndrome (syndromic Craniosynostosis), the cause and inheritance pattern depend on the syndrome the person has. However, most syndromic causes of Craniosynostosis are autosomal dominant. Craniosynostosis can also be associated with a metabolic disease such as rickets, or hyperthyroidism. However, not all children with Craniosynostosis will need surgery. Children who have surgery and are otherwise healthy generally do not experience long-term complications, especially when only one suture is involved.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1531","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015469","ORPHANET_ID__c":"ORPHA:1531","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Craneosinostosis","Spanish_Description_Source__c":"ORPHA:1531","Spanish_Description__c":"La craneosinostosis se define como la fusión prematura de una o más suturas craneales que conducen a una distorsión secundaria de la forma del cráneo que resulta en deformidades del cráneo con una presentación variable. La craneosinostosis puede ocurrir de forma aislada o como parte de un síndrome.","Spanish_Disease_Name__c":"craneosinostosis","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Craniosynostosis is the premature closure of one or more of the joints that connect the bones of a baby's skull (cranial sutures). Normally, the bones remain separate until about age 2, while the brain is growing. They then fuse together and stay connected throughout life. The closure is premature when it occurs before brain growth is complete. Symptoms and severity vary depending on how many sutures close prematurely. For example, if only one closes prematurely (which is most common), brain growth may continue in other parts of the skull, leading only to an abnormally-shaped skull and no other health problems or complications. If multiple sutures close prematurely, brain growth can be restricted. This can lead to increased pressure in the skull, impaired brain development, seizures, blindness, and/or intellectual disability. Craniosynostosis may occur as a single abnormality (isolated Craniosynostosis) or it may occur as one feature of one of many syndromes. Most cases of isolated Craniosynostosis occur randomly (sporadically) and have no known cause. In some cases, isolated Craniosynostosis is due to a genetic change in any of several genes, with autosomal dominant inheritance. When Craniosynostosis is a feature of a larger syndrome (syndromic Craniosynostosis), the cause and inheritance pattern depend on the syndrome the person has. However, most syndromic causes of Craniosynostosis are autosomal dominant. Craniosynostosis can also be associated with a metabolic disease such as rickets, or hyperthyroidism. However, not all children with Craniosynostosis will need surgery. Children who have surgery and are otherwise healthy generally do not experience long-term complications, especially when only one suture is involved.","Curated_Disease_Description_Source__c":"GARD:0006209","GARD_Synonym__c":"congenital ossification of cranial sutures; congenital ossification of sutures of skull; cranial suture synostosis; craniostenosis; craniostosis; craniosynostosis; craniosyostosis; cso - craniosynostosis; deformity of the skull; early fusion of cranial sutures; premature closure of cranial sutures; premature cranial suture closure; premature suture closure","Name":"Craniosynostosis syndrome","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"myFace","Website__c":"https://www.myface.org/"},{"Account_Name__c":"Craniosynostosis and Positional Plagiocephaly Support Inc","Website__c":"https://www.cappskids.org/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"World Craniofacial Foundation","Website__c":"https://www.worldcf.org/"},{"Account_Name__c":"Headlines Craniofacial Support","Website__c":"https://www.headlines.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1531"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1531"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0010278"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1163","Source__c":"C0010278","Xref__c":"MEDGEN:1163"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84655","Source__c":"C0010278; MONDO:0015469","Xref__c":"C84655"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS123100","Source__c":"MONDO:0015469","Xref__c":"OMIMPS:123100"},{"URL__c":"https://www.orpha.net/en/disease/detail/1531","Source__c":"C0010278; MONDO:0015469; ORPHA:1531","Xref__c":"ORPHA:1531"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2340","Source__c":"MONDO:0015469","Xref__c":"DOID:2340"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C003398","Source__c":"C0010278; MONDO:0015469","Xref__c":"D003398"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q75.0","Source__c":"MONDO:0015469","Xref__c":"Q75.0"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0010278","Source__c":"C0010278","Xref__c":"C0010278"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=57219006","Source__c":"C0010278","Xref__c":"57219006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015469","Source__c":"GARD:0006209","Xref__c":"MONDO:0015469"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001363","Source__c":"C0010278","Xref__c":"HP:0001363"}],"Inheritance__c":["X-linked recessive","Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["congenital ossification of cranial sutures"," congenital ossification of sutures of skull"," cranial suture synostosis"," craniostenosis"," craniostosis"," craniosynostosis"," craniosyostosis"," cso - craniosynostosis"," deformity of the skull"," early fusion of cranial sutures"," premature closure of cranial sutures"," premature cranial suture closure"," premature suture closure"]}