{"Name":"Popliteal pterygium syndrome","DiseaseID__c":"GARD:0021189","id":21189,"encodedName":"popliteal-pterygium-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Popliteal pterygium syndrome","Xref_IDs__c":"66783006; C0265259; C118786; C562509; DOID:0060055; MEDGEN:78543; MONDO:0017435; ORPHA:294963","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017435","Disease_Description__c":"A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.","GARD_Name__c":"Popliteal pterygium syndrome","GARD_Synonym__c":"facio-genito-popliteal syndrome; pps","Curated_Disease_Description_Source__c":"MONDO:0017435","Curated_Disease_Description__c":"Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may 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 popliteal pterygium syndrome have missing teeth. Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum). People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:294963","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017435","ORPHANET_ID__c":"ORPHA:294963","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de pterigium poplíteo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de pterigium poplíteo","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":"Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may 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 popliteal pterygium syndrome have missing teeth. Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum). People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.","Curated_Disease_Description_Source__c":"MONDO:0017435","GARD_Synonym__c":"facio-genito-popliteal syndrome; pps","Name":"Popliteal pterygium syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Orthopedics","Tag_Category__c":"Specialist"},{"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:294963"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:294963"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=66783006","Source__c":"C0265259; MONDO:0017435","Xref__c":"66783006"},{"URL__c":"https://www.orpha.net/en/disease/detail/294963","Source__c":"C0265259; MONDO:0017435; ORPHA:294963","Xref__c":"ORPHA:294963"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060055","Source__c":"MONDO:0017435","Xref__c":"DOID:0060055"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118786","Source__c":"MONDO:0017435","Xref__c":"C118786"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78543","Source__c":"C0265259","Xref__c":"MEDGEN:78543"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265259","Source__c":"C0265259","Xref__c":"C0265259"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562509","Source__c":"MONDO:0017435","Xref__c":"C562509"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017435","Source__c":"GARD:0021189","Xref__c":"MONDO:0017435"},{"URL__c":"https://medlineplus.gov/genetics/condition/popliteal-pterygium-syndrome","Source__c":"GARD:0021189","Xref__c":"https://medlineplus.gov/genetics/condition/popliteal-pterygium-syndrome"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies","Congenital limb malformation"]},"synonyms":["facio-genito-popliteal syndrome"," pps"]}