{"Name":"Chondrodysplasia punctata, Toriello type","DiseaseID__c":"GARD:0016716","id":16716,"encodedName":"chondrodysplasia-punctata-toriello-type","IsDeleted":false,"Disease_Name_Full__c":"Chondrodysplasia punctata, Toriello type","Xref_IDs__c":"715631005; C1859132; C565853; MEDGEN:347071; MONDO:0008973; OMIM:215105; ORPHA:79347","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008973","Disease_Description__c":"Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.","GARD_Name__c":"Chondrodysplasia punctata, Toriello type","GARD_Synonym__c":"toriello-higgins-miller syndrome","Curated_Disease_Description_Source__c":"MONDO:0008973","Curated_Disease_Description__c":"Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:79347","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008973","ORPHANET_ID__c":"ORPHA:79347","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Condrodisplasia punctata tipo toriello","Spanish_Description_Source__c":"ORPHA:79347","Spanish_Description__c":"La condrodisplasia punctata tipo Toriello, es un síndrome de displasia ósea primaria no rizomélico poco frecuente caracterizado por calcificaciones epifisarias punteadas en asociación con anomalías faciales menores, talla baja y coloboma ocular. Además, los afectados presentan condrodisplasia punctata, braquicefalia, perfil facial plano con nariz pequeña, párpados inferiores planos y orejas de implantación baja, retraso del desarrollo, braquitelefalangia y pliegues palmares profundos. Tambien se ha descrito asociación con enfermedades cardíacas congénitas complejas y anomalías del sistema nervioso central (incluida la ausencia parcial de cuerpo calloso, vermis pequeño, agrandamiento de la cisterna magna y/o de los cuernos anteriores de los ventrículos laterales).","Spanish_Disease_Name__c":"condrodisplasia punctata tipo toriello","Spanish_GARD_Synonym__c":"síndrome de toriello-higgins-miller","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":"Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.","Curated_Disease_Description_Source__c":"MONDO:0008973","GARD_Synonym__c":"toriello-higgins-miller syndrome","Name":"Chondrodysplasia punctata, Toriello type","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":"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:79347"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/79347","Source__c":"C1859132; MONDO:0008973","Xref__c":"ORPHA:79347"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347071","Source__c":"C1859132","Xref__c":"MEDGEN:347071"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715631005","Source__c":"MONDO:0008973","Xref__c":"715631005"},{"URL__c":"https://www.omim.org/entry/215105","Source__c":"C1859132; MONDO:0008973; ORPHA:79347","Xref__c":"OMIM:215105"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859132","Source__c":"C1859132","Xref__c":"C1859132"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565853","Source__c":"MONDO:0008973","Xref__c":"C565853"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008973","Source__c":"GARD:0016716","Xref__c":"MONDO:0008973"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["toriello-higgins-miller syndrome"]}