{"Name":"Distal trisomy 4q","DiseaseID__c":"GARD:0019312","id":19312,"encodedName":"distal-trisomy-4q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 4q","Xref_IDs__c":"763273008; C4706362; MEDGEN:1633392; MONDO:0019879; ORPHA:96096","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:0019879","Disease_Description__c":"Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.","GARD_Name__c":"Distal trisomy 4q","GARD_Synonym__c":"distal duplication 4q; distal trisomy type 4q; telomeric duplication 4q; trisomy 4qter","Curated_Disease_Description_Source__c":"MONDO:0019879","Curated_Disease_Description__c":"Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment 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:96096","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019879","ORPHANET_ID__c":"ORPHA:96096","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 4q","Spanish_Description_Source__c":"ORPHA:96096","Spanish_Description__c":"La trisomía terminal 4q es una anomalía cromosómica poco frecuente, resultante de la duplicación parcial del brazo largo del cromosoma 4. Presenta un fenotipo muy variable caracterizado por retraso psicomotor, discapacidad intelectual, dismorfia craneofacial (microcefalia, orejas prominentes de baja implantación, fisuras palpebrales inclinadas hacia abajo, hipertelorismo, pliegues epicánticos, puente nasal ancho y prominente, paladar alto, arqueado y hendido, micro/ retrognatia), convulsiones, así como anomalías dentales y digitales (clinodactilia, polidactilia). También se han reportado malformaciones cardíacas, anomalías renales, criptorquidia, hipotonía y deficiencia auditiva.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 4q","Spanish_GARD_Synonym__c":"trisomía 4qter; trisomía terminal 4q","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 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0019879","GARD_Synonym__c":"distal duplication 4q; distal trisomy type 4q; telomeric duplication 4q; trisomy 4qter","Name":"Distal trisomy 4q","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:96096"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96096"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/96096","Source__c":"C4706362; MONDO:0019879; ORPHA:96096","Xref__c":"ORPHA:96096"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1633392","Source__c":"C4706362","Xref__c":"MEDGEN:1633392"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763273008","Source__c":"C4706362; MONDO:0019879","Xref__c":"763273008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706362","Source__c":"C4706362","Xref__c":"C4706362"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019879","Source__c":"GARD:0019312","Xref__c":"MONDO:0019879"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 4q"," distal trisomy type 4q"," telomeric duplication 4q"," trisomy 4qter"]}