{"Name":"Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome","DiseaseID__c":"GARD:0021364","id":21364,"encodedName":"contractures-webbed-neck-micrognathia-hypoplastic-nipples-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome","Xref_IDs__c":"C4751075; MEDGEN:1661787; MONDO:0017788; ORPHA:314002","USA_Estimate__c":"1,000","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":"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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:314002","Disease_Description__c":"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.","GARD_Name__c":"Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome","GARD_Synonym__c":"contractures-webbed neck-micrognathia-hypoplastic nipples syndrome; contractures, webbed neck, micrognathia, hypoplastic nipples syndrome; dinno syndrome; joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome","Curated_Disease_Description_Source__c":"ORPHA:314002","Curated_Disease_Description__c":"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.","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:314002","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017788","ORPHANET_ID__c":"ORPHA:314002","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de contracturas-cuello palmeado-micrognatia-pezones hipoplásicos","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de contracturas-cuello palmeado-micrognatia-pezones hipoplásicos","Spanish_GARD_Synonym__c":"síndrome de dinno","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":"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.","Curated_Disease_Description_Source__c":"ORPHA:314002","GARD_Synonym__c":"contractures-webbed neck-micrognathia-hypoplastic nipples syndrome; contractures, webbed neck, micrognathia, hypoplastic nipples syndrome; dinno syndrome; joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome","Name":"Contractures - webbed neck - micrognathia - hypoplastic nipples 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":"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":"Infancy","Provided_By__c":"ORPHA:314002"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:314002"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/314002","Source__c":"C4751075; MONDO:0017788; ORPHA:314002","Xref__c":"ORPHA:314002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1661787","Source__c":"C4751075","Xref__c":"MEDGEN:1661787"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751075","Source__c":"C4751075","Xref__c":"C4751075"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017788","Source__c":"GARD:0021364","Xref__c":"MONDO:0017788"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773626008","Source__c":"C4751075","Xref__c":"773626008"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["contractures-webbed neck-micrognathia-hypoplastic nipples syndrome"," contractures, webbed neck, micrognathia, hypoplastic nipples syndrome"," dinno syndrome"," joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome"]}