{"Name":"Van der Woude syndrome","DiseaseID__c":"GARD:0008414","id":8414,"encodedName":"van-der-woude-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Van der Woude syndrome","Xref_IDs__c":"79261008; C0175697; C536528; C74986; DOID:0060239; MEDGEN:61233; MONDO:0019508; OMIMPS:119300; ORPHA:888","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019508","Disease_Description__c":"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.","GARD_Name__c":"Van der Woude syndrome","GARD_Synonym__c":"cleft lip/palate with mucous cysts of lower lip; lip-pit syndrome; lip-pit-cleft lip syndrome; vws","Curated_Disease_Description_Source__c":"GARD:0008414","Curated_Disease_Description__c":"Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with either a cleft lip or a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:888","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019508","ORPHANET_ID__c":"ORPHA:888","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de van der woude","Spanish_Description_Source__c":"ORPHA:888","Spanish_Description__c":"El síndrome de Van der Woude (VWS) es una enfermedad de origen genético, que se caracteriza fundamentalmente por la presencia de diversas anomalias orofaciales, como fístulas paramedianas del labio inferior, labio leporino con o sin paladar hendido, o paladar hendido aislado.","Spanish_Disease_Name__c":"síndrome de van der woude","Spanish_GARD_Synonym__c":"labio leporino y/o paladar hendido con quistes mucosos del labio inferior; síndrome de fosita labial; vws","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":"Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with either a cleft lip or a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.","Curated_Disease_Description_Source__c":"GARD:0008414","GARD_Synonym__c":"cleft lip/palate with mucous cysts of lower lip; lip-pit syndrome; lip-pit-cleft lip syndrome; vws","Name":"Van der Woude syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.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:888"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:888"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0175697"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008414","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1407","Source__c":"Gene Review","Xref__c":"NBK1407"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060239","Source__c":"MONDO:0019508","Xref__c":"DOID:0060239"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C74986","Source__c":"C0175697; MONDO:0019508","Xref__c":"C74986"},{"URL__c":"https://www.orpha.net/en/disease/detail/888","Source__c":"C0175697; MONDO:0019508; ORPHA:888","Xref__c":"ORPHA:888"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=61233","Source__c":"C0175697","Xref__c":"MEDGEN:61233"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0175697","Source__c":"C0175697","Xref__c":"C0175697"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536528","Source__c":"MONDO:0019508","Xref__c":"C536528"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=79261008","Source__c":"C0175697; MONDO:0019508","Xref__c":"79261008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019508","Source__c":"GARD:0008414","Xref__c":"MONDO:0019508"},{"URL__c":"https://medlineplus.gov/genetics/condition/van-der-woude-syndrome","Source__c":"GARD:0008414","Xref__c":"https://medlineplus.gov/genetics/condition/van-der-woude-syndrome"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS119300","Source__c":"MONDO:0019508","Xref__c":"OMIMPS:119300"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GRHL3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IRF6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/irf6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:888","HPO_Frequency__c":"Frequent (30-79%)","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:888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the salivary glands, the exocrine glands that produce saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010286","HPO_Synonym__c":"Abnormality of the salivary glands","HPO_Name__c":"Abnormal salivary gland morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010296","HPO_Synonym__c":"Tongue tied","HPO_Name__c":"Ankyloglossia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Depression located on the vermilion of the lower lip, usually paramedian.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000196","HPO_Name__c":"Lower lip pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:888","HPO_Frequency__c":"Occasional (5-29%)","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:888","HPO_Frequency__c":"Occasional (5-29%)","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:888","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A depression located on a lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100267","HPO_Name__c":"Lip pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["cleft lip/palate with mucous cysts of lower lip"," lip-pit syndrome"," lip-pit-cleft lip syndrome"," vws"]}