{"Name":"Orofaciodigital syndrome X","DiseaseID__c":"GARD:0004061","id":4061,"encodedName":"orofaciodigital-syndrome-x","IsDeleted":false,"Disease_Name_Full__c":"Orofaciodigital syndrome X","Xref_IDs__c":"722075004; C1833796; C563491; DOID:0060380; MEDGEN:322280; MONDO:0008137; OMIM:165590","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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008137","Disease_Description__c":"Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.","GARD_Name__c":"Orofaciodigital syndrome X","GARD_Synonym__c":"figuera syndrome; ofd10; ofds x; oral-facial-digital syndrome type 10; oral-facial-digital syndrome with fibular aplasia; oral-facial-digital syndrome, type x; oro-facial digital syndrome type 10; orofaciodigital syndrome type 10; orofaciodigital syndrome type x; orofaciodigital syndrome with fibular aplasia","Curated_Disease_Description_Source__c":"MONDO:0008137","Curated_Disease_Description__c":"Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2756","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008137","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":"Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.","Curated_Disease_Description_Source__c":"MONDO:0008137","GARD_Synonym__c":"figuera syndrome; ofd10; ofds x; oral-facial-digital syndrome type 10; oral-facial-digital syndrome with fibular aplasia; oral-facial-digital syndrome, type x; oro-facial digital syndrome type 10; orofaciodigital syndrome type 10; orofaciodigital syndrome type x; orofaciodigital syndrome with fibular aplasia","Name":"Orofaciodigital syndrome X","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"Ameriface","Website__c":"http://www.ameriface.org"},{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/165590","Source__c":"C1833796; MONDO:0008137","Xref__c":"OMIM:165590"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833796","Source__c":"C1833796","Xref__c":"C1833796"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563491","Source__c":"MONDO:0008137","Xref__c":"C563491"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322280","Source__c":"C1833796","Xref__c":"MEDGEN:322280"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060380","Source__c":"MONDO:0008137","Xref__c":"DOID:0060380"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722075004","Source__c":"C1833796; MONDO:0008137","Xref__c":"722075004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008137","Source__c":"GARD:0004061","Xref__c":"MONDO:0008137"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:165590","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009380","HPO_Synonym__c":"Absent fingers; Aplasia of the fingers; Hand has less than 5 fingers; Hand oligodactyly","HPO_Name__c":"Finger aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165590","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165590","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001177","HPO_Synonym__c":"Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly","HPO_Name__c":"Preaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165590","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165590","Feature__r":{"HPO_Description__c":"Absence of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002990","HPO_Synonym__c":"Absent calf bone; Absent fibulae; Absent-hypoplastic fibulae","HPO_Name__c":"Fibular aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165590","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165590","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165590","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005802","HPO_Name__c":"Coalescence of tarsal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["figuera syndrome"," ofd10"," ofds x"," oral-facial-digital syndrome type 10"," oral-facial-digital syndrome with fibular aplasia"," oral-facial-digital syndrome, type x"," oro-facial digital syndrome type 10"," orofaciodigital syndrome type 10"," orofaciodigital syndrome type x"," orofaciodigital syndrome with fibular aplasia"]}