{"Name":"Lethal occipital encephalocele-skeletal dysplasia syndrome","DiseaseID__c":"GARD:0017348","id":17348,"encodedName":"lethal-occipital-encephalocele-skeletal-dysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lethal occipital encephalocele-skeletal dysplasia syndrome","Xref_IDs__c":"C3280729; MEDGEN:482359; MONDO:0013740; OMIM:614416; ORPHA:293925","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013740","Disease_Description__c":"Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.","GARD_Name__c":"Lethal occipital encephalocele-skeletal dysplasia syndrome","GARD_Synonym__c":"craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies","Curated_Disease_Description_Source__c":"MONDO:0013740","Curated_Disease_Description__c":"Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.","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:293925","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013740","ORPHANET_ID__c":"ORPHA:293925","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome letal de encefalocele occipital-displasia esquelética","Spanish_Description_Source__c":"ORPHA:293925","Spanish_Description__c":"El síndrome letal de encefalocele occipital - displasia esquelética es un trastorno del desarrollo óseo, genético y poco frecuente, caracterizado por hipoplasia ósea parietal y occipital que conduce a encefalocele occipital, defectos de la mineralización ósea craneal, craneosinostosis, fusión radiohumeral, oligodactilia y otras anomalías esqueléticas (aracnodactilia, aplasia de las falanges distales de los pulgares, ausencia bilateral del dedo gordo del pie, fémures con angulación bilateral pronunciada, extremidades acortadas, maduración ósea avanzada). Lleva asociada la muerte fetal <i>in utero</i>.","Spanish_Disease_Name__c":"síndrome letal de encefalocele occipital-displasia esquelética","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":"Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.","Curated_Disease_Description_Source__c":"MONDO:0013740","GARD_Synonym__c":"craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies","Name":"Lethal occipital encephalocele-skeletal dysplasia 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":"Neonatal","Provided_By__c":"ORPHA:293925"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:293925"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/614416","Source__c":"C3280729; MONDO:0013740; ORPHA:293925","Xref__c":"OMIM:614416"},{"URL__c":"https://www.orpha.net/en/disease/detail/293925","Source__c":"C3280729; MONDO:0013740","Xref__c":"ORPHA:293925"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482359","Source__c":"C3280729","Xref__c":"MEDGEN:482359"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280729","Source__c":"C3280729","Xref__c":"C3280729"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013740","Source__c":"GARD:0017348","Xref__c":"MONDO:0013740"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP26B1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614416","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003041","HPO_Synonym__c":"Fusion of upper and lower arm bones; Humeral radial synostosis; Humeral-radial synostosis; Radiohumeral synostosis of elbow; Synostosis of radius and humerus","HPO_Name__c":"Humeroradial synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614416","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012165","HPO_Name__c":"Oligodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614416","Feature__r":{"HPO_Description__c":"A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002085","HPO_Synonym__c":"Brain tissue sticks out through back of skull; Occipital meningoencephalocele; Posterior encephalocele","HPO_Name__c":"Occipital encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614416","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000248","HPO_Synonym__c":"Short and broad skull","HPO_Name__c":"Brachycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614416","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:614416","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies"]}