{"Name":"Distal trisomy 16q","DiseaseID__c":"GARD:0019320","id":19320,"encodedName":"distal-trisomy-16q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 16q","Xref_IDs__c":"764459008; C4706934; MEDGEN:1633675; MONDO:0019887; ORPHA:96106","USA_Estimate__c":null,"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":null,"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:0019887","Disease_Description__c":"Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.","GARD_Name__c":"Distal trisomy 16q","GARD_Synonym__c":"distal duplication 16q; distal trisomy type 16q; telomeric duplication 16q; trisomy 16qter","Curated_Disease_Description_Source__c":"MONDO:0019887","Curated_Disease_Description__c":"Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:96106","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019887","ORPHANET_ID__c":"ORPHA:96106","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 16q","Spanish_Description_Source__c":"ORPHA:96106","Spanish_Description__c":"La trisomía terminal 16q es una anomalía cromosómica poco frecuente, que resulta de la trisomía parcial del brazo largo del cromosoma 16, con un fenotipo variable caracterizado principalmente por retraso del desarrollo, discapacidad intelectual grave, hipotonía, dismorfia facial (incluyendo frente prominente y alta, pliegues epicánticos, orejas displásicas, puente nasal ancho/deprimido, hipoplasia malar, paladar estrecho y arqueado, bermellón del labio superior delgado, micrognatia) y anomalías en las manos/pies (p. ej., aracnodactilia, pie equinovaro). También se asocian defectos cardíacos, malformaciones genitourinarias y anomalías vertebrales y se han descrito casos de trombocitopenia e infecciones recurrentes.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 16q","Spanish_GARD_Synonym__c":"trisomía 16qter; trisomía terminal 16q","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":"Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0019887","GARD_Synonym__c":"distal duplication 16q; distal trisomy type 16q; telomeric duplication 16q; trisomy 16qter","Name":"Distal trisomy 16q","estimateUsa":""}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96106"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96106"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/96106","Source__c":"C4706934; MONDO:0019887; ORPHA:96106","Xref__c":"ORPHA:96106"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706934","Source__c":"C4706934","Xref__c":"C4706934"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764459008","Source__c":"C4706934; MONDO:0019887","Xref__c":"764459008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1633675","Source__c":"C4706934","Xref__c":"MEDGEN:1633675"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019887","Source__c":"GARD:0019320","Xref__c":"MONDO:0019887"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 16q"," distal trisomy type 16q"," telomeric duplication 16q"," trisomy 16qter"]}