{"Name":"Marfanoid habitus-inguinal hernia-advanced bone age syndrome","DiseaseID__c":"GARD:0021368","id":21368,"encodedName":"marfanoid-habitus-inguinal-hernia-advanced-bone-age-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Marfanoid habitus-inguinal hernia-advanced bone age syndrome","Xref_IDs__c":"C5190606; MEDGEN:1684094; MONDO:0017793; ORPHA:314041","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:314041","Disease_Description__c":"Marfanoid habitus-inguinal hernia-advanced bone age syndrome is a very rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).","GARD_Name__c":"Marfanoid habitus-inguinal hernia-advanced bone age syndrome","GARD_Synonym__c":"marfanoid habitus, inguinal hernia, advanced bone age syndrome","Curated_Disease_Description_Source__c":"ORPHA:314041","Curated_Disease_Description__c":"A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:314041","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017793","ORPHANET_ID__c":"ORPHA:314041","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hábito marfanoide-hernia inguinal-edad ósea avanzada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hábito marfanoide-hernia inguinal-edad ósea avanzada","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 developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).","Curated_Disease_Description_Source__c":"ORPHA:314041","GARD_Synonym__c":"marfanoid habitus, inguinal hernia, advanced bone age syndrome","Name":"Marfanoid habitus-inguinal hernia-advanced bone age 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":"Rheumatology","Tag_Category__c":"Specialist"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:314041"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:314041"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:314041"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1684094","Source__c":"C5190606","Xref__c":"MEDGEN:1684094"},{"URL__c":"https://www.orpha.net/en/disease/detail/314041","Source__c":"C5190606; MONDO:0017793; ORPHA:314041","Xref__c":"ORPHA:314041"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190606","Source__c":"C5190606","Xref__c":"C5190606"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017793","Source__c":"GARD:0021368","Xref__c":"MONDO:0017793"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782780007","Source__c":"C5190606","Xref__c":"782780007"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Orthopedics","Pediatrics"]},"synonyms":["marfanoid habitus, inguinal hernia, advanced bone age syndrome"]}