{"Name":"Lethal omphalocele-cleft palate syndrome","DiseaseID__c":"GARD:0004079","id":4079,"encodedName":"lethal-omphalocele-cleft-palate-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lethal omphalocele-cleft palate syndrome","Xref_IDs__c":"719408007; C1850317; C537747; MEDGEN:376757; MONDO:0009780; OMIM:258320; ORPHA:2736","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009780","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.","GARD_Name__c":"Lethal omphalocele-cleft palate syndrome","GARD_Synonym__c":"czeizel syndrome; lethal omphalocele with cleft palate syndrome","Curated_Disease_Description_Source__c":"MONDO:0009780","Curated_Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.","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:2736","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009780","ORPHANET_ID__c":"ORPHA:2736","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome letal de onfalocele-paladar hendido","Spanish_Description_Source__c":"ORPHA:2736","Spanish_Description__c":"Es un síndrome dismórfico/ con múltiples anomalías congénitas poco frecuente caracterizado por la asociación de onfalocele y fisura palatina. Otros hallazgos descritos son labio leporino, úvula bífida, pie equinovaro bilateral, útero bicorne e hidrocefalia interna. El trastorno es letal en la lactancia.","Spanish_Disease_Name__c":"síndrome letal de onfalocele-paladar hendido","Spanish_GARD_Synonym__c":"síndrome de czeizel","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 multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.","Curated_Disease_Description_Source__c":"MONDO:0009780","GARD_Synonym__c":"czeizel syndrome; lethal omphalocele with cleft palate syndrome","Name":"Lethal omphalocele-cleft palate 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2736"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2736"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850317","Source__c":"C1850317","Xref__c":"C1850317"},{"URL__c":"https://www.omim.org/entry/258320","Source__c":"C1850317; MONDO:0009780; ORPHA:2736","Xref__c":"OMIM:258320"},{"URL__c":"https://www.orpha.net/en/disease/detail/2736","Source__c":"C1850317; MONDO:0009780; ORPHA:2736","Xref__c":"ORPHA:2736"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537747","Source__c":"MONDO:0009780","Xref__c":"C537747"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719408007","Source__c":"C1850317; MONDO:0009780","Xref__c":"719408007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376757","Source__c":"C1850317","Xref__c":"MEDGEN:376757"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009780","Source__c":"GARD:0004079","Xref__c":"MONDO:0009780"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A non-midline cleft of the upper lip on one side only.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100333","HPO_Synonym__c":"One sided cleft upper lip; Unilateral cheiloschisis; Unilateral cleft upper lip","HPO_Name__c":"Unilateral cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2736","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:2736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000185","HPO_Synonym__c":"Cleft muscular palate; Cleft of soft palate; Cleft velum","HPO_Name__c":"Cleft soft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a bifid uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000136","HPO_Name__c":"Bifid uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2736","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["czeizel syndrome"," lethal omphalocele with cleft palate syndrome"]}