{"Name":"Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome","DiseaseID__c":"GARD:0002276","id":2276,"encodedName":"posterior-fusion-of-lumbosacral-vertebrae-blepharoptosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome","Xref_IDs__c":"724064004; C1860464; C536344; MEDGEN:348108; MONDO:0008650; OMIM:192800; ORPHA:2064","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008650","Disease_Description__c":"A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.","GARD_Name__c":"Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome","GARD_Synonym__c":"congenital ptosis and posterior fusion of lumbosacral vertebrae; familial posterior lumbosacral vertebral fusion and eyelid ptosis; faulk-epstein-jones syndrome; vertebral fusion, posterior lumbosacral, with blepharoptosis","Curated_Disease_Description_Source__c":"ORPHA:2064","Curated_Disease_Description__c":"A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2064","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008650","ORPHANET_ID__c":"ORPHA:2064","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fusión posterior de las vértebras lumbosacras-blefaroptosis","Spanish_Description_Source__c":"ORPHA:2064","Spanish_Description__c":"Es un síndrome poco frecuente caracterizado por ptosis congénita y fusión posterior de las vértebras lumbosacras. Se ha descrito en una madre y sus dos hijas.","Spanish_Disease_Name__c":"síndrome de fusión posterior de las vértebras lumbosacras-blefaroptosis","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":"A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae.","Curated_Disease_Description_Source__c":"ORPHA:2064","GARD_Synonym__c":"congenital ptosis and posterior fusion of lumbosacral vertebrae; familial posterior lumbosacral vertebral fusion and eyelid ptosis; faulk-epstein-jones syndrome; vertebral fusion, posterior lumbosacral, with blepharoptosis","Name":"Posterior fusion of lumbosacral vertebrae-blepharoptosis 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2064"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2064","Source__c":"C1860464; MONDO:0008650","Xref__c":"ORPHA:2064"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724064004","Source__c":"MONDO:0008650","Xref__c":"724064004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348108","Source__c":"C1860464","Xref__c":"MEDGEN:348108"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536344","Source__c":"MONDO:0008650","Xref__c":"C536344"},{"URL__c":"https://www.omim.org/entry/192800","Source__c":"C1860464; MONDO:0008650; ORPHA:2064","Xref__c":"OMIM:192800"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860464","Source__c":"C1860464","Xref__c":"C1860464"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008650","Source__c":"GARD:0002276","Xref__c":"MONDO:0008650"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008368","HPO_Synonym__c":"Fused ankle bones; Synostosis involving tarsal bones; Synostosis of tarsal bones; Tarsal bone fusion; Tarsal bone synostosis; Tarsal fusion; Tarsal fusions","HPO_Name__c":"Tarsal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2064","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2064","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2064","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bony fusion of the posterior part of the L5 vertebral body with the sacrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005626","HPO_Name__c":"Posterior fusion of lumbosacral vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000960","HPO_Synonym__c":"Pilonidal dimple; Spinal dimple","HPO_Name__c":"Sacral dimple","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["congenital ptosis and posterior fusion of lumbosacral vertebrae"," familial posterior lumbosacral vertebral fusion and eyelid ptosis"," faulk-epstein-jones syndrome"," vertebral fusion, posterior lumbosacral, with blepharoptosis"]}