{"Name":"Craniosynostosis, Philadelphia type","DiseaseID__c":"GARD:0001601","id":1601,"encodedName":"craniosynostosis-philadelphia-type","IsDeleted":false,"Disease_Name_Full__c":"Craniosynostosis, Philadelphia type","Xref_IDs__c":"720818003; C1832590; C563368; MEDGEN:321988; MONDO:0015467; ORPHA:1527","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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015467","Disease_Description__c":"Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.","GARD_Name__c":"Craniosynostosis, Philadelphia type","GARD_Synonym__c":"craniosynostosis philadelphia type","Curated_Disease_Description_Source__c":"MONDO:0015467","Curated_Disease_Description__c":"Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1527","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015467","ORPHANET_ID__c":"ORPHA:1527","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Craneosinostosis tipo filadelfia","Spanish_Description_Source__c":"ORPHA:1527","Spanish_Description__c":"Es un tipo de craneosinostosis sindrómica caracterizado por una forma de la cabeza dolicocefálica (alargada o apepinada), una apariencia facial relativamente normal y sindactilia cutánea completa en manos y pies. La transmisión es autosómica dominante con expresión variable de los hallazgos de las manos y penetrancia incompleta de la craneosinostosis sagital. Se ha sugerido que comparte la misma etiología que la sindactilia tipo 1A.","Spanish_Disease_Name__c":"craneosinostosis tipo filadelfia","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, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.","Curated_Disease_Description_Source__c":"MONDO:0015467","GARD_Synonym__c":"craniosynostosis philadelphia type","Name":"Craniosynostosis, Philadelphia type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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/"}],"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1527"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832590","Source__c":"C1832590","Xref__c":"C1832590"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321988","Source__c":"C1832590","Xref__c":"MEDGEN:321988"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720818003","Source__c":"C1832590; MONDO:0015467","Xref__c":"720818003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563368","Source__c":"MONDO:0015467","Xref__c":"C563368"},{"URL__c":"https://www.orpha.net/en/disease/detail/1527","Source__c":"C1832590; MONDO:0015467; ORPHA:1527","Xref__c":"ORPHA:1527"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015467","Source__c":"GARD:0001601","Xref__c":"MONDO:0015467"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1527","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1527","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1527","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000637","HPO_Synonym__c":"Broad opening between the eyelids; Broad palpebral fissure; Long opening between the eyelids; Long palpebral fissures; Wide opening between the eyelids; Wide palpebral fissure; Wide palpebral fissures","HPO_Name__c":"Long palpebral fissure","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Craniofacial Anomalies","Congenital limb malformation"]},"synonyms":["craniosynostosis philadelphia type"]}