{"Name":"Short rib-polydactyly syndrome, Majewski type","DiseaseID__c":"GARD:0004833","id":4833,"encodedName":"short-rib-polydactyly-syndrome-majewski-type","IsDeleted":false,"Disease_Name_Full__c":"Short rib-polydactyly syndrome, Majewski type","Xref_IDs__c":"72922008; CN305384; MEDGEN:988414; MONDO:0019662; ORPHA:93269","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:93269","Disease_Description__c":"A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.","GARD_Name__c":"Short rib-polydactyly syndrome, Majewski type","GARD_Synonym__c":"short rib-polydactyly syndrome type 2; srps, type ii","Curated_Disease_Description_Source__c":"ORPHA:93269","Curated_Disease_Description__c":"A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:93269","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019662","ORPHANET_ID__c":"ORPHA:93269","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de polidactilia y costillas cortas tipo majewski","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de polidactilia y costillas cortas tipo majewski","Spanish_GARD_Synonym__c":"síndrome de polidactilia y costillas cortas tipo 2","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 ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.","Curated_Disease_Description_Source__c":"ORPHA:93269","GARD_Synonym__c":"short rib-polydactyly syndrome type 2; srps, type ii","Name":"Short rib-polydactyly syndrome, Majewski type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"UCLA International Skeletal Dysplasia Registry (ISDR)","Website__c":"https://www.uclahealth.org/ortho/isdr"}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory 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:93269"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:93269"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004833","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/93269","Source__c":"CN305384; MONDO:0019662","Xref__c":"ORPHA:93269"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=72922008","Source__c":"MONDO:0019662","Xref__c":"72922008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN305384","Source__c":"CN305384","Xref__c":"CN305384"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019662","Source__c":"GARD:0004833","Xref__c":"MONDO:0019662"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=988414","Source__c":"CN305384","Xref__c":"MEDGEN:988414"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DYNC2H1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dync2h1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TRAF3IP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NEK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Orthopedics","Pediatrics"]},"synonyms":["short rib-polydactyly syndrome type 2"," srps, type ii"]}