{"Name":"Orofaciodigital syndrome XI","DiseaseID__c":"GARD:0004118","id":4118,"encodedName":"orofaciodigital-syndrome-xi","IsDeleted":false,"Disease_Name_Full__c":"Orofaciodigital syndrome XI","Xref_IDs__c":"718681002; C2752048; C557821; DOID:0060381; MEDGEN:416694; MONDO:0013035; OMIM:612913; ORPHA:141000","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013035","Disease_Description__c":"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.","GARD_Name__c":"Orofaciodigital syndrome XI","GARD_Synonym__c":"gabrielli syndrome; ofd syndrome 11; ofd11; ofds 11; ofds xi; oral-facial-digital syndrome gabrielli type; oral-facial-digital syndrome type 11; oral-facial-digital syndrome with skeletal anomalies; oral-facial-digital syndrome, gabrielli type; oral-facial-digital syndrome, type xi; oro-facial digital syndrome type 11; orofaciodigital syndrome gabrielli type; orofaciodigital syndrome type 11; orofaciodigital syndrome type xi; orofaciodigital syndrome, gabrielli type","Curated_Disease_Description_Source__c":"MONDO:0013035","Curated_Disease_Description__c":"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:141000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013035","ORPHANET_ID__c":"ORPHA:141000","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome orofaciodigital tipo 11","Spanish_Description_Source__c":"ORPHA:141000","Spanish_Description__c":"El síndrome orofaciodigital tipo 11 es una forma esporádica, extremadamente rara, del síndrome orofaciodigital (OFDS; ver este término) con solo unos pocos casos conocidos, y caracterizada por malformaciones faciales (blefarofimosis, punta de la nariz bulbosa, puente nasal amplio, fisuras palpebrales inclinadas hacia abajo e implantación baja de las orejas) y esqueléticas (polidactilia post-axial y fusión de las vértebras) junto con un déficit intelectual grave, sordera y defectos cardíacos congénitos.","Spanish_Disease_Name__c":"síndrome orofaciodigital tipo 11","Spanish_GARD_Synonym__c":"ofd11; síndrome orofaciodigital tipo gabrielli","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":"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.","Curated_Disease_Description_Source__c":"MONDO:0013035","GARD_Synonym__c":"gabrielli syndrome; ofd syndrome 11; ofd11; ofds 11; ofds xi; oral-facial-digital syndrome gabrielli type; oral-facial-digital syndrome type 11; oral-facial-digital syndrome with skeletal anomalies; oral-facial-digital syndrome, gabrielli type; oral-facial-digital syndrome, type xi; oro-facial digital syndrome type 11; orofaciodigital syndrome gabrielli type; orofaciodigital syndrome type 11; orofaciodigital syndrome type xi; orofaciodigital syndrome, gabrielli type","Name":"Orofaciodigital syndrome XI","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/"}],"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:141000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/612913","Source__c":"C2752048; MONDO:0013035; ORPHA:141000","Xref__c":"OMIM:612913"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2752048","Source__c":"C2752048","Xref__c":"C2752048"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C557821","Source__c":"MONDO:0013035","Xref__c":"C557821"},{"URL__c":"https://www.orpha.net/en/disease/detail/141000","Source__c":"C2752048; MONDO:0013035; ORPHA:141000","Xref__c":"ORPHA:141000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060381","Source__c":"MONDO:0013035","Xref__c":"DOID:0060381"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718681002","Source__c":"C2752048; MONDO:0013035","Xref__c":"718681002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=416694","Source__c":"C2752048","Xref__c":"MEDGEN:416694"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013035","Source__c":"GARD:0004118","Xref__c":"MONDO:0013035"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612913","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612913","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612913","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612913","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612913","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100259","HPO_Synonym__c":"Polydactyly, postaxial; Postaxial hexadactyly","HPO_Name__c":"Postaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612913","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612913","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dens of the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003311","HPO_Synonym__c":"Hypoplastic odontoid process; Odontoid hypoplasia; Small odontoid peg; Small odontoid process","HPO_Name__c":"Hypoplasia of the odontoid process","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612913","HPO_Frequency__c":"Very frequent (80-99%)","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:612913","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612913","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies","Congenital limb malformation"]},"synonyms":["gabrielli syndrome"," ofd syndrome 11"," ofd11"," ofds 11"," ofds xi"," oral-facial-digital syndrome gabrielli type"," oral-facial-digital syndrome type 11"," oral-facial-digital syndrome with skeletal anomalies"," oral-facial-digital syndrome, gabrielli type"," oral-facial-digital syndrome, type xi"," oro-facial digital syndrome type 11"," orofaciodigital syndrome gabrielli type"," orofaciodigital syndrome type 11"," orofaciodigital syndrome type xi"," orofaciodigital syndrome, gabrielli type"]}