{"Name":"Cloverleaf skull syndrome","DiseaseID__c":"GARD:0003115","id":3115,"encodedName":"cloverleaf-skull-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cloverleaf skull syndrome","Xref_IDs__c":"254022009; C0432126; C536884; MEDGEN:98141; MONDO:0007861; OMIM:148800","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007861","Disease_Description__c":"Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.","GARD_Name__c":"Cloverleaf skull syndrome","GARD_Synonym__c":"clover leaf skull deformity; isolated cloverleaf skull syndrome; kleeblattschadel; kleeblattschadel deformity","Curated_Disease_Description_Source__c":"MONDO:0007861","Curated_Disease_Description__c":"Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007861","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.","Curated_Disease_Description_Source__c":"MONDO:0007861","GARD_Synonym__c":"clover leaf skull deformity; isolated cloverleaf skull syndrome; kleeblattschadel; kleeblattschadel deformity","Name":"Cloverleaf skull syndrome","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254022009","Source__c":"C0432126; MONDO:0007861","Xref__c":"254022009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432126","Source__c":"C0432126","Xref__c":"C0432126"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536884","Source__c":"MONDO:0007861","Xref__c":"C536884"},{"URL__c":"https://www.omim.org/entry/148800","Source__c":"MONDO:0007861","Xref__c":"OMIM:148800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98141","Source__c":"C0432126","Xref__c":"MEDGEN:98141"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007861","Source__c":"GARD:0003115","Xref__c":"MONDO:0007861"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:148800","Feature__r":{"HPO_Description__c":"Trilobar skull configuration when viewed from the front or behind.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002676","HPO_Synonym__c":"Kleeblattschaedel","HPO_Name__c":"Cloverleaf skull","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148800","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148800","Feature__r":{"HPO_Description__c":"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000495","HPO_Synonym__c":"Corneal erosions, recurrent; Recurrent breakdown of clear protective layer of eye; Recurrent corneal ulceration","HPO_Name__c":"Recurrent corneal erosions","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148800","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148800","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003070","HPO_Name__c":"Elbow ankylosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:148800","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["clover leaf skull deformity"," isolated cloverleaf skull syndrome"," kleeblattschadel"," kleeblattschadel deformity"]}