{"Name":"Midline cervical cleft","DiseaseID__c":"GARD:0019971","id":19971,"encodedName":"midline-cervical-cleft","IsDeleted":false,"Disease_Name_Full__c":"Midline cervical cleft","Xref_IDs__c":"403557001; C4479645; MEDGEN:1374384; MONDO:0015419; ORPHA:141288","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015419","Disease_Description__c":"A rare neck malformation characterized by a congenital vertical atrophic and usually erythematous skin defect of variable length, lacking adnexal elements and located along the midline of the anterior neck. It typically presents with a superior skin tag, a midline subcutaneous fibrous cord which is often longer than the overlying skin defect, and an inferior blind sinus from which mucus can be expressed. The length of the defect increases with patients' age. Likewise, the fibrous cord becomes more prominent with age, potentially leading to restriction of neck extension if the malformation is left untreated. Other possible complications include microgenia, exostosis, torticollis, or infection.","GARD_Name__c":"Midline cervical cleft","GARD_Synonym__c":"midline brainstem cleft","Curated_Disease_Description_Source__c":"ORPHA:141288","Curated_Disease_Description__c":"Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:141288","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015419","ORPHANET_ID__c":"ORPHA:141288","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura cervical de la línea media","Spanish_Description_Source__c":"ORPHA:141288","Spanish_Description__c":"Es una malformación poco frecuente del cuello caracterizada por un defecto congénito cutáneo atrófico y generalmente eritematoso, vertical, de longitud variable, sin la presencia de estructuras anexiales y que se localiza a lo largo de la línea media de la parte anterior del cuello. Por lo general, se presenta con un apéndice cutáneo superior, un cordón fibroso subcutáneo en la línea media que a menudo es más largo que el defecto cutáneo suprayacente y un seno ciego inferior desde el cual se puede expulsar mucosidad. La longitud del defecto aumenta con la edad de los pacientes. Del mismo modo, el cordón fibroso se vuelve más prominente con la edad, lo que podría provocar una restricción de la extensión del cuello si la malformación no se trata. Puede asociar otras complicaciones, como microgenia, exostosis, tortícolis o infección.","Spanish_Disease_Name__c":"hendidura cervical de la línea media","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":"Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.","Curated_Disease_Description_Source__c":"ORPHA:141288","GARD_Synonym__c":"midline brainstem cleft","Name":"Midline cervical cleft","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/141288","Source__c":"C4479645; MONDO:0015419; ORPHA:141288","Xref__c":"ORPHA:141288"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1374384","Source__c":"C4479645","Xref__c":"MEDGEN:1374384"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4479645","Source__c":"C4479645","Xref__c":"C4479645"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403557001","Source__c":"C4479645; MONDO:0015419","Xref__c":"403557001"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0033645","Source__c":"C4479645","Xref__c":"HP:0033645"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015419","Source__c":"GARD:0019971","Xref__c":"MONDO:0015419"}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology"],"Account":["Craniofacial Anomalies"]},"synonyms":["midline brainstem cleft"]}