{"Name":"Cleft palate-stapes fixation-oligodontia syndrome","DiseaseID__c":"GARD:0001393","id":1393,"encodedName":"cleft-palate-stapes-fixation-oligodontia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cleft palate-stapes fixation-oligodontia syndrome","Xref_IDs__c":"C1859081; C565844; MEDGEN:347795; MONDO:0008993; OMIM:216300; ORPHA:2010","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008993","Disease_Description__c":"A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.","GARD_Name__c":"Cleft palate-stapes fixation-oligodontia syndrome","GARD_Synonym__c":"cleft palate, deafness, and oligodontia","Curated_Disease_Description_Source__c":"MONDO:0008993","Curated_Disease_Description__c":"A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2010","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008993","ORPHANET_ID__c":"ORPHA:2010","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de paladar hendido-fijación del estribo-oligodoncia","Spanish_Description_Source__c":"ORPHA:2010","Spanish_Description__c":"Es un síndrome malformativo congénito poco frecuente caracterizado por paladar blando hendido, oligodoncia grave de los dientes temporales, ausencia de dentición permanente, sordera conductiva bilateral debida a la fijación de la platina del estribo, dedos cortos con un amplio espacio entre el primer y el segundo dedo del pie, y fusión de los huesos del carpo y del tarso. No ha habido más descripciones en la literatura desde 1971.","Spanish_Disease_Name__c":"síndrome de paladar hendido-fijación del estribo-oligodoncia","Spanish_GARD_Synonym__c":null,"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":"A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.","Curated_Disease_Description_Source__c":"MONDO:0008993","GARD_Synonym__c":"cleft palate, deafness, and oligodontia","Name":"Cleft palate-stapes fixation-oligodontia 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":"Odontology","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:2010"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859081","Source__c":"C1859081","Xref__c":"C1859081"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347795","Source__c":"C1859081","Xref__c":"MEDGEN:347795"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565844","Source__c":"MONDO:0008993","Xref__c":"C565844"},{"URL__c":"https://www.orpha.net/en/disease/detail/2010","Source__c":"C1859081; MONDO:0008993","Xref__c":"ORPHA:2010"},{"URL__c":"https://www.omim.org/entry/216300","Source__c":"C1859081; MONDO:0008993; ORPHA:2010","Xref__c":"OMIM:216300"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008993","Source__c":"GARD:0001393","Xref__c":"MONDO:0008993"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009702","HPO_Synonym__c":"Carpal bone fusion; Carpal fusion; Fused carpal bones; Fusion of carpal bones; Synostosis involving the carpal bones","HPO_Name__c":"Carpal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or failure to form of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000413","HPO_Synonym__c":"Absent auditory canals; Absent ear canal; Absent external auditory canals; Atretic auditory canal; Atretic auditory canals; Atretic external auditory canal; Atretic external auditory canals; Auditory canal atresia; External acoustic meatus atresia; External auditory canal atresia; External auditory meatal atresia; External auditory meatus atresia","HPO_Name__c":"Atresia of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2010","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":"ORPHA:2010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number of primary teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012225","HPO_Synonym__c":"Failure of development of some deciduous teeth; Failure of development of some primary teeth; Partial anodontia of deciduous teeth; Partial anodontia of primary teeth","HPO_Name__c":"Oligodontia of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008368","HPO_Synonym__c":"Fused ankle bones; Synostosis involving tarsal bones; Synostosis of tarsal bones; Tarsal bone fusion; Tarsal bone synostosis; Tarsal fusion; Tarsal fusions","HPO_Name__c":"Tarsal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the wrist, the structure connecting the hand and the forearm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003019","HPO_Synonym__c":"Abnormalities of the wrists; Abnormality of the wrist","HPO_Name__c":"Abnormality of the wrist","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bilateral type of conductive hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008513","HPO_Synonym__c":"Bilateral conductive deafness; Bilateral conductive hearing loss","HPO_Name__c":"Bilateral conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the foot with the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003028","HPO_Synonym__c":"Abnormality of the ankles","HPO_Name__c":"Abnormality of the ankle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2010","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["cleft palate, deafness, and oligodontia"]}