{"Name":"3q26q27 microdeletion syndrome","DiseaseID__c":"GARD:0021534","id":21534,"encodedName":"3q26q27-microdeletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"3q26q27 microdeletion syndrome","Xref_IDs__c":"C4755255; MEDGEN:1668723; MONDO:0018156","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:356947","Disease_Description__c":"3q26q27 microdeletion syndrome is a rare partial autosomal monosomy syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.","GARD_Name__c":"3q26q27 microdeletion syndrome","GARD_Synonym__c":"3q26-q27microdeletion syndrome; del(3)(q26q27); monosomy 3q26-q27; monosomy 3q26q27","Curated_Disease_Description_Source__c":"ORPHA:356947","Curated_Disease_Description__c":"This rare chromosomal disease occurs when a small piece of genetic material is missing from part of chromosome 3. This disease can cause weak muscle tone at birth, poor growth before and after birth, trouble feeding, and delays in learning and development. People with this disease may have late tooth eruption, crowded teeth, or teeth that do not fall out on time, as well as repeated lung infections, low platelet counts, and facial features such as a flat face, sparse inner eyebrows, folds of skin over the inner corners of the eyes, a flat nose, and a short space between the nose and upper lip. Some individuals may also show differences in behavior, including attention deficit hyperactivity disorder (ADHD) or autistic traits.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:356947","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018156","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare chromosomal disease occurs when a small piece of genetic material is missing from part of chromosome 3. This disease can cause weak muscle tone at birth, poor growth before and after birth, trouble feeding, and delays in learning and development. People with this disease may have late tooth eruption, crowded teeth, or teeth that do not fall out on time, as well as repeated lung infections, low platelet counts, and facial features such as a flat face, sparse inner eyebrows, folds of skin over the inner corners of the eyes, a flat nose, and a short space between the nose and upper lip. Some individuals may also show differences in behavior, including attention deficit hyperactivity disorder (ADHD) or autistic traits.","Curated_Disease_Description_Source__c":"ORPHA:356947","GARD_Synonym__c":"3q26-q27microdeletion syndrome; del(3)(q26q27); monosomy 3q26-q27; monosomy 3q26q27","Name":"3q26q27 microdeletion syndrome","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/"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755255","Source__c":"C4755255","Xref__c":"C4755255"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1668723","Source__c":"C4755255","Xref__c":"MEDGEN:1668723"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018156","Source__c":"GARD:0021534","Xref__c":"MONDO:0018156"}],"tags":{},"synonyms":["3q26-q27microdeletion syndrome"," del(3)(q26q27)"," monosomy 3q26-q27"," monosomy 3q26q27"]}