{"Name":"Craniosynostosis-intracranial calcifications syndrome","DiseaseID__c":"GARD:0016653","id":16653,"encodedName":"craniosynostosis-intracranial-calcifications-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Craniosynostosis-intracranial calcifications syndrome","Xref_IDs__c":"720816004; C1842058; C564241; MEDGEN:333981; MONDO:0012035; OMIM:608432; ORPHA:52054","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012035","Disease_Description__c":"Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.","GARD_Name__c":"Craniosynostosis-intracranial calcifications syndrome","GARD_Synonym__c":"craniosynostosis, calcification of basal ganglia, and facial dysmorphism; longman-tolmie syndrome","Curated_Disease_Description_Source__c":"MONDO:0012035","Curated_Disease_Description__c":"Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:52054","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012035","ORPHANET_ID__c":"ORPHA:52054","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de craneosinostosis-calcificaciones intracraneales","Spanish_Description_Source__c":"ORPHA:52054","Spanish_Description__c":"Es una forma de craneosinostosis sindrómica caracterizada por pan-craneosinostosis, perímetro cefálico inferior al perímetro cefálico parental medio, leve dismorfia facial (crestas supraorbitarias prominentes, proptosis discreta e hipoplasia maxilar) y calcificación de los ganglios basales. La enfermedad se asocia a un pronóstico neurológico favorable e inteligencia normal, y sigue un patrón de herencia autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de craneosinostosis-calcificaciones intracraneales","Spanish_GARD_Synonym__c":"síndrome de longman-tolmie","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-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"MONDO:0012035","GARD_Synonym__c":"craniosynostosis, calcification of basal ganglia, and facial dysmorphism; longman-tolmie syndrome","Name":"Craniosynostosis-intracranial calcifications syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:52054"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:52054"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720816004","Source__c":"MONDO:0012035","Xref__c":"720816004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564241","Source__c":"MONDO:0012035","Xref__c":"C564241"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842058","Source__c":"C1842058","Xref__c":"C1842058"},{"URL__c":"https://www.omim.org/entry/608432","Source__c":"C1842058; MONDO:0012035; ORPHA:52054","Xref__c":"OMIM:608432"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333981","Source__c":"C1842058","Xref__c":"MEDGEN:333981"},{"URL__c":"https://www.orpha.net/en/disease/detail/52054","Source__c":"C1842058; MONDO:0012035","Xref__c":"ORPHA:52054"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012035","Source__c":"GARD:0016653","Xref__c":"MONDO:0012035"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["craniosynostosis, calcification of basal ganglia, and facial dysmorphism"," longman-tolmie syndrome"]}