{"Name":"Cleft palate-lateral synechia syndrome","DiseaseID__c":"GARD:0001391","id":1391,"encodedName":"cleft-palate-lateral-synechia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cleft palate-lateral synechia syndrome","Xref_IDs__c":"403772000; C0795898; C563047; DOID:0080313; MEDGEN:162888; MONDO:0007337; OMIM:119550; ORPHA:2016","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007337","Disease_Description__c":"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.","GARD_Name__c":"Cleft palate-lateral synechia syndrome","GARD_Synonym__c":"cleft palate lateral synechia syndrome; cpls - cleft palate-lateral synechia syndrome; cpls syndrome; syngnathia","Curated_Disease_Description_Source__c":"MONDO:0007337","Curated_Disease_Description__c":"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.","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:2016","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007337","ORPHANET_ID__c":"ORPHA:2016","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de paladar hendido-sinequias laterales","Spanish_Description_Source__c":"ORPHA:2016","Spanish_Description__c":"El síndrome de fisura palatina-sinequias laterales (CPLS; por sus siglas en inglés) es un síndrome de malformación congénita caracterizado por la asociación de paladar hendido y sinequias laterales intraorales que conectan los bordes libres del paladar y el piso de la boca. Se presume que el CPLS se hereda de forma autosómica dominante.","Spanish_Disease_Name__c":"síndrome de paladar hendido-sinequias laterales","Spanish_GARD_Synonym__c":"síndrome cpls","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":"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"MONDO:0007337","GARD_Synonym__c":"cleft palate lateral synechia syndrome; cpls - cleft palate-lateral synechia syndrome; cpls syndrome; syngnathia","Name":"Cleft palate-lateral synechia 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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2016"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2016"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403772000","Source__c":"C0795898; MONDO:0007337","Xref__c":"403772000"},{"URL__c":"https://www.omim.org/entry/119550","Source__c":"C0795898; MONDO:0007337; ORPHA:2016","Xref__c":"OMIM:119550"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080313","Source__c":"MONDO:0007337","Xref__c":"DOID:0080313"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795898","Source__c":"C0795898","Xref__c":"C0795898"},{"URL__c":"https://www.orpha.net/en/disease/detail/2016","Source__c":"C0795898; MONDO:0007337; ORPHA:2016","Xref__c":"ORPHA:2016"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162888","Source__c":"C0795898","Xref__c":"MEDGEN:162888"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563047","Source__c":"MONDO:0007337","Xref__c":"C563047"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007337","Source__c":"GARD:0001391","Xref__c":"MONDO:0007337"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2016","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2016","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2016","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010285","HPO_Synonym__c":"Synechiae of the mouth","HPO_Name__c":"Oral synechia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2016","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2016","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2016","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased prominence or roundness of soft tissues between zygomata and mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000293","HPO_Synonym__c":"Apple cheeks; Big cheeks; Full cheeks; Increased size of cheeks; Large cheeks","HPO_Name__c":"Full cheeks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2016","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2016","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["cleft palate lateral synechia syndrome"," cpls - cleft palate-lateral synechia syndrome"," cpls syndrome"," syngnathia"]}