{"Name":"Overgrowth syndrome with 2q37 translocation","DiseaseID__c":"GARD:0022032","id":22032,"encodedName":"overgrowth-syndrome-with-2q37-translocation","IsDeleted":false,"Disease_Name_Full__c":"Overgrowth syndrome with 2q37 translocation","Xref_IDs__c":"1169362009; C5567236; MEDGEN:1798659; MONDO:0034676; ORPHA:498488","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0034676","Disease_Description__c":"A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.","GARD_Name__c":"Overgrowth syndrome with 2q37 translocation","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0034676","Curated_Disease_Description__c":"A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.","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:498488","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0034676","ORPHANET_ID__c":"ORPHA:498488","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sobrecrecimiento con translocación 2q37","Spanish_Description_Source__c":"ORPHA:498488","Spanish_Description__c":"Es un síndrome poco frecuente de sobrecrecimiento con afectación esquelética caracterizado por un hábito corporal alto y delgado y múltiples manifestaciones esqueléticas, como escoliosis, macrodactilia en los primeros dedos del pie, aracnodactilia de los dedos de las manos y de los pies, camptodactilia y clinodactilia, así como pie valgo progresivo. También se ha descrito displasia epimetafisaria, incurvación de la tibia y rasgos faciales dismórficos (hipertelorismo, paladar ojival o micrognatia), así como dilatación de la raíz aórtica y hernia umbilical.","Spanish_Disease_Name__c":"síndrome de sobrecrecimiento con translocación 2q37","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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 overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0034676","Name":"Overgrowth syndrome with 2q37 translocation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:498488"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:498488"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798659","Source__c":"C5567236","Xref__c":"MEDGEN:1798659"},{"URL__c":"https://www.orpha.net/en/disease/detail/498488","Source__c":"C5567236; MONDO:0034676; ORPHA:498488","Xref__c":"ORPHA:498488"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567236","Source__c":"C5567236","Xref__c":"C5567236"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1169362009","Source__c":"C5567236","Xref__c":"1169362009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0034676","Source__c":"GARD:0022032","Xref__c":"MONDO:0034676"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":[""]}