{"Name":"Familial median cleft of the upper and lower lips","DiseaseID__c":"GARD:0017663","id":17663,"encodedName":"familial-median-cleft-of-the-upper-and-lower-lips","IsDeleted":false,"Disease_Name_Full__c":"Familial median cleft of the upper and lower lips","Xref_IDs__c":"C4014596; DOID:0080407; MEDGEN:863033; MONDO:0014388; OMIM:615892; ORPHA:401942","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014388","Disease_Description__c":"A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.","GARD_Name__c":"Familial median cleft of the upper and lower lips","GARD_Synonym__c":"orofacial cleft 14","Curated_Disease_Description_Source__c":"ORPHA:401942","Curated_Disease_Description__c":"Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:401942","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014388","ORPHANET_ID__c":"ORPHA:401942","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura media del labio superior e inferior familiar","Spanish_Description_Source__c":"ORPHA:401942","Spanish_Description__c":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por hendiduras medias incompletas tanto del labio inferior (limitado al bermellón, sin afectación muscular) como del superior (con afectación muscular), frenillo labial doble y fusión de la mucosa gingival y labial superior (resultando en un pliegue vestibular superior poco profundo), además de incorrecta alineación dental y aumento de la distancia interdental entre los incisivos medios inferiores y superiores.","Spanish_Disease_Name__c":"hendidura media del labio superior e inferior familiar","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":"Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.","Curated_Disease_Description_Source__c":"ORPHA:401942","GARD_Synonym__c":"orofacial cleft 14","Name":"Familial median cleft of the upper and lower lips","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.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":"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":"Neonatal","Provided_By__c":"ORPHA:401942"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080407","Source__c":"MONDO:0014388","Xref__c":"DOID:0080407"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4014596","Source__c":"C4014596","Xref__c":"C4014596"},{"URL__c":"https://www.orpha.net/en/disease/detail/401942","Source__c":"C4014596; MONDO:0014388","Xref__c":"ORPHA:401942"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863033","Source__c":"C4014596","Xref__c":"MEDGEN:863033"},{"URL__c":"https://www.omim.org/entry/615892","Source__c":"C4014596; MONDO:0014388; ORPHA:401942","Xref__c":"OMIM:615892"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014388","Source__c":"GARD:0017663","Xref__c":"MONDO:0014388"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000204","HPO_Synonym__c":"Cheiloschisis of upper lip; Cleft upper lip; Harelip","HPO_Name__c":"Cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of cleft lip presenting as a midline (median) gap in the upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000161","HPO_Synonym__c":"Central cleft upper lip; Midline cleft lip","HPO_Name__c":"Median cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the mandible, the bone of the lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000277","HPO_Synonym__c":"Abnormality of the lower jaw bone; Abnormality of the mandible","HPO_Name__c":"Abnormal mandible morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital defect with an abnormal joining of the gums of the upper and lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012292","HPO_Synonym__c":"Fusion of gums; Fusion of the gingiva; Gingival synechia; Partial fusion of the gums; Synechia of the gums; Upper and lower gums fused together","HPO_Name__c":"Fusion of gums","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased space between two adjacent teeth in the same dental arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000699","HPO_Synonym__c":"Dental diastasis; Dental diastema; Diastasis of the teeth; Diastema of the teeth; Gap between teeth","HPO_Name__c":"Diastema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000309","HPO_Synonym__c":"Abnormal morphology of the midface; Abnormality of the midface; Anomaly of the midface","HPO_Name__c":"Abnormal midface morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the Maxilla (upper jaw bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000326","HPO_Synonym__c":"Abnormality of the maxilla; Abnormality of the upper jaw bone; Abnormality of the upper jaw bones","HPO_Name__c":"Abnormal maxilla morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040079","HPO_Synonym__c":"Irregular teeth","HPO_Name__c":"Irregular dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of an orbicularis oris muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000010","HPO_Name__c":"Abnormality of orbicularis oris muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A gap in the lower lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010281","HPO_Synonym__c":"Cleft lower lip; Cleft of the lower lip; Lower labial cleft","HPO_Name__c":"Cleft lower lip","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["orofacial cleft 14"]}